pigmentary retinopathy

Chorioretinopathy, Ataxia, and Hypogonadism

Clinical Characteristics
Ocular Features: 

The retinal pigment epithelium changes may be seen as early as the first decade of life with pigment deposition resembling bone spicules.  These changes as well as atrophy of the choriocapillaris are most apparent in the posterior pole and extend into the midperiphery.  Retinal vessels may be attenuated.  Progressive loss of vision, dyschromatopsia, and photophobia are the primary ocular symptoms. Night blindness and constricted visual fields are noted by some patients.  The ERG shows subnormal and sometimes absent photopic and scotopic responses.  Nystagmus is present in more than half of individuals. 

Systemic Features: 

Difficulties with balance, intention tremors, and scanning speech are evident in adolescence or early adult life.  Cerebellar ataxia is present in nearly 40 percent of individuals.  However, there is marked variability in the rate of progression.  Many patients have atrophy of the superior and dorsal areas of the cerebellar vermis and atrophy of the cerebellar hemispheres as noted on MRIs. Hypogonadotrophic hypogonadism is a feature with delayed puberty noted in 26 percent.  In the absence of exogenous hormone administration, secondary sexual characteristics fail to develop.

Genetics

Autosomal recessive inheritance has been suggested on the basis of consanguinity in three families, multiple affected sibs born to normal parents, and a 1:1 sex ratio.  Homozygous and compound heterozygous mutations in PNPLA6 (19p13.2) have been found in several patients.

Mutations in PNPLA6 occur in other conditions including a form of Bardet-Biedl Syndrome (209900), and Trichomegaly Plus Syndrome (275400), in this database.

 

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

The use of appropriate hormones can stimulate the development of normal secondary sexual characteristics and may restore reproductive function.   At least two female patients gave birth to a child following hormone substitution.

Low vision aids could be helpful in selected patients.

References
Article Title: 

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature

Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M. Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature. J Neurol. 2014 Oct 31. [Epub ahead of print].

PubMed ID: 
25359264

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain. 2013 Dec 19. [Epub ahead of print].

PubMed ID: 
24355708

Danon Disease

Clinical Characteristics
Ocular Features: 

The ocular features of Danon disease are less well known than the systemic manifestations and are as yet not fully delineated likely because not all patients have visual symptoms or fundus changes.  The most commonly described fundus abnormalities are pigmentary changes variously called a peripheral pigmentary retinopathy or a pigmentary atrophy in some cases.   Changes in pigmentation may be mild in both affected males and carrier females, but are generally more severe in males.  A bulls-eye maculopathy and color vision deficiencies have been described.  Loss of visual acuity is variable and may lead to symptoms before myopathy is evident.  Vision loss is usually progressive and may be reduced to hand motions.  OCT shows thinning of the photoreceptor and RPE layers.  The full field ERG is reduced in amplitude consistent with a generalized cone-rod dystrophy.

Systemic Features: 

This disorder, originally believed to be a type of glycogen storage disease, is actually a form of autophagic vacuolar myopathy.    The characteristic vacuoles are found in muscle cytoplasm surrounded by sarcolemmal proteins and basal lamina.  The primary extraocular disease occurs in the myocardium although skeletal muscle may also be involved.  Intellectual disability is a variable and inconsistent feature.  

Cardiac rhythm abnormalities are common and include AV nodal block, atrial fibrillation, and Wolff-Parkinson-White EKG findings.  Hypertrophic cardiomyopathy (and sometimes dilated cardiomyopathy) with primary involvement of the left ventricle is common.  Symptoms typically occur in males before the age of 20 years and somewhat later in females.

Some patients have muscular weakness and exercise intolerance.  Diagnosis can be made when the characteristic vacuoles are present in a muscle biopsy but their absence does not rule out the diagnosis.

Genetics

This is an X-linked dominant disorder caused by mutations in LAMP2 (Xp24).  Females are generally less severely affected than males. Most men with Danon disease have some intellectual disability as well as skeletal myopathy but these features are found in less than half of affected women.  

Pedigree: 
X-linked dominant, father affected
X-linked dominant, mother affected
Treatment
Treatment Options: 

No known treatment is available for the ocular disease.  Transplantation can be an effective treatment for the cardiomyopathy which can be lethal even in adolescents.

References
Article Title: 

Cardiac arrhythmias in patients with Danon disease

Konrad T, Sonnenschein S, Schmidt FP, Mollnau H, Bock K, Ocete BQ, Munzel T, Theis C, Rostock T. Cardiac arrhythmias in patients with Danon disease. Europace. 2016 Oct 14. pii: euw215.

PubMed ID: 
27742774

Cone-rod dystrophy in Danon disease

Brodie S. Cone-rod dystrophy in Danon disease. Graefes Arch Clin Exp Ophthalmol. 2012 Mar 10. [Epub ahead of print].

PubMed ID: 
22407291

Optic Nerve Edema, Splenomegaly, Cytopenias

Clinical Characteristics
Ocular Features: 

Persistent optic nerve edema is eventually followed by some degree of optic atrophy.  The nerve edema may be seen early in the first decade of life and is not associated with increased lumbar puncture pressure.  Peripapillary hemorrhages may be seen.  Visual acuity may decrease somewhat by the end of the first decade of life and becomes functionally significant in early adolescence and may be reduced to counting fingers.  The ERG, which shows minimal dysfunction early, eventually appears nearly flat without photopic or scotopic responses.  The retinal vessels become markedly attenuated and the macula may be mildly edematous and show pigmentary changes.  Pigment clumping is not seen.  Visual fields show a central or cecocentral scotoma, enlargement of the blind spot, and eventually severe peripheral constriction.  The vitreous and aqueous humor sometimes have an increased number of cells.   Lenticular opacities requiring cataract surgery has been reported.  One patient developed a phacomorphic angle closure attack at the age of 19 years.

Systemic Features: 

Splenomegaly is a consistent sign and is usually present in the first decade of life but histology shows primarily cellular congestion of the red pulp cords.  Bone marrow biopsies show mild erythroid hyperplasia. Peripheral blood counts show mild neutropenia and thrombocytopenia.  Occasional atypical lymphocytes may be seen.  Patients often complain of mildly to moderately severe migraine headaches.  Urticaria and anhidrosis are common features.

Genetics

Only a single report of this condition has been published.  A mother and two daughters (half sisters) had the symptoms described here and this is the basis for consideration of autosomal dominant inheritance.  Nothing is known regarding the etiology or the mechanism of disease.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Topical, intravitreal, oral, and subtenon application of steroids apparently have no impact on the progression of the intraocular disease.  Cataracts may need to be removed.

References
Article Title: 

An inherited disorder with splenomegaly, cytopenias, and vision loss

Tantravahi SK, Williams LB, Digre KB, Creel DJ, Smock KJ, Deangelis MM, Clayton FC, Vitale AT, Rodgers GM. An inherited disorder with splenomegaly, cytopenias, and vision loss. Am J Med Genet A. 2012 Mar;158A(3):475-81. doi: 10.1002/ajmg.a.34437. Epub 2012 Feb 3.

PubMed ID: 
22307799

Retinitis Pigmentosa and Mental Retardation

Clinical Characteristics
Ocular Features: 

The lenses may have pleomorphic white axial opacities but in other patients can be totally opacified.  Optic atrophy is present and vision may be reduced to light perception but nystagmus is absent.  Evidence suggests that vision loss is progressive.  Some patients have extensive posterior synechiae while others have been noted to have sluggish pupils.  High myopia is a feature. The retinal pigmentation has a typical retinitis pigmentosa picture with attenuated retinal vessels and equatorial bone spicule pigmentation located in the midperiphery while the macula can have a bull’s eye appearance.   

Systemic Features: 

Early development may seem normal but developmental milestones are usually delayed.  Postnatal microcephaly and growth deficiency with mental retardation and early hypotonia are typical features.  The mental retardation may be severe.  Scoliosis and arachnodactyly have been noted and hypogonadism has been reported.  Speech may not develop and mobility is sometimes limited.

Genetics

The family pattern suggests autosomal recessive inheritance.  Homozygosity mapping has identified in a region of chromosome 8 (8q21.2-22.1) that overlaps the region for Cohen syndrome () but no specific mutated gene has been identified.      

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

None.

References
Article Title: 

Retinitis Pigmentosa with Ataxia

Clinical Characteristics
Ocular Features: 

Pigmentary retinopathy has been noted by 6 months of age. Typical symptoms of retinitis pigmentosa are reported by early childhood.  The visual fields are progressively constricted and a ring scotoma can be plotted.  Night blindness and visual acuity loss are evident in the first decade of life and progressively worsen leading to severe handicaps by the third.  Fundus pigmentation in the midperiphery becomes more prominent and in at least some patients the pattern consists of typical bone spicules.  Cellophane maculopathy has been described.

Systemic Features: 

Proprioceptive deficits and areflexia appear in early childhood and ataxia worsens as individuals mature.  Scoliosis and general weakness and wasting become prominent manifestations.  Sensory neuropathy with loss of vibratory and position sense, astereognosia, and agraphesthesia can become apparent in the first decade of life.  Walking is delayed and gait abnormalities are clearly evident by the second decade leading to orthopedic deformities such as scoliosis.  Unassisted walking becomes impossible.  The intrinsic hand and foot muscles also have mild weakness.  Sural nerve biopsy may reveal loss of large myelinated fibers.  Hyperintense signals in the posterior spinal columns can be seen on MRI.  No anatomic changes have been described in the cerebrum or cerebellum.

Genetics

This is an autosomal recessive disorder resulting from homozygous mutations in FLVCR1 (1q32.2-q41).  This disorder has some clinical similarities to Biemond 1 syndrome but differs in the inheritance pattern and the molecular basis.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No specific treatment is available but physical therapy and low vision aids may improve the quality of life.

References
Article Title: 

Pearson Marrow-Pancreas Syndrome

Clinical Characteristics
Ocular Features: 

Although systemic disease is usually evident during infancy, ocular symptoms such as ptosis and ophthalmoplegia may not be apparent until adulthood in those that survive.  The ocular myopathy in adults can resemble Kearns-Sayre syndrome (530000) as the result of a phenotypic shift from a predominantly hematopoietic disorder to a mitochondrial myopathy.  Bilateral zonular cataracts and strabismus have been reported in a 3 year old male.  A midperiphery pigmentary retinopathy has been observed.  Endothelial cell failure leads to corneal edema. 

Systemic Features: 

Low birth weight, failure to thrive, hypoplastic anemia and exocrine pancreatic dysfunction are often seen in infancy.  Precursor cells in the marrow show typical vacuolization. Malabsorption and insulin-dependent diabetes often develop.  The pancreas and bone marrow may become fibrotic.  Patients with the classic syndrome as a child can develop features of the Kearns-Sayre syndrome if they survive childhood.  Progressive muscle weakness in pharyngeal, facial, neck, and limb muscles is sometimes seen in older individuals and muscle biopsy reveals ragged-red fibers characteristic of mitochondrial disease.  Some patients have an organic aciduria and others develop hepatic failure with elevated transaminase, bilirubin and lipid levels.  Kidney damage results in Fanconi syndrome.  Young children may recover from the refractory anemia eventually but metabolic acidosis with life-threatening lactic acidosis is a constant threat and responsible for many childhood deaths.

Genetics

Deletions in mtDNA involving numerous genes are responsible for this condition.  As a result, it is maternally transmitted but somewhat inconsistently due to mitochondrial heteroplasmy.  Both sexes are affected.  The irregular size of the mtDNA deletions and the tissue distribution of affected mitochondria results in considerable variation in clinical expression.  Defective oxidative phosphorylation seems to be the underlying cause of many of the signs and symptoms.

Treatment
Treatment Options: 

This multisystem disease requires careful monitoring throughout life.  Blood transfusions may be required and careful attention needs to be given to nutrition and metabolic dysfunction.  A few patients have required insulin.  In spite of vigorous treatment of electrolyte imbalances, correction of acidosis, and hormonal supplements, many patients do not survive beyond childhood.  Organ failure requires individualized treatment.

References
Article Title: 

Pearson Syndrome

Farruggia P, Di Marco F, Dufour C. Pearson Syndrome. Expert Rev Hematol. 2018 Jan 16. doi: 10.1080/17474086.2018.1426454. [Epub ahead of print].

PubMed ID: 
29337599

Chorioretinal dysplasia, lymphedema, and microcephaly

Clinical Characteristics
Ocular Features: 

The congenital lymphedema results in thickened and ptotic eyelids with prominent epicanthal folds.  Congenital ptosis is not uncommon in the general population in the absence of lymphedema so that this feature by itself is insufficient to diagnose this syndrome.  Retinal folds with variable degrees of pigmentary changes are often present.  Narrowed retinal vessels, atrophic nerve heads and progressive chorioretinopathy have been reported.  Visual acuity is often reduced, sometimes severely, and nystagmus may be present.

Systemic Features: 

Coarse hair follicles over the dorsum of the hands and feet and white nails when combined with the thickened, ptotic eyelids suggest the presence of lymphedema.  The hair pattern is often altered on the arms, nape of the neck, and the back.  White lines in the palms are also suggestive.  The 'facial phenotype' includes full cheeks, flat nasal bridge and underdeveloped supraorbital ridges, up slanting palpebral fissures, broad nose with rounded tip, anteverted nares, and a long philtrum, thin upper lip, and sometimes micrognathia. The ears may appear large.  Children with this syndrome are often hypotonic during the newborn period but this feature is less evident later in childhood and improves more rapidly than the resolution of the lymphedema. The lymphedema usually improves during early childhood and is often confined to the dorsum of the hands and feet at that time.  Psychomotor development is variably delayed and some but not all patients are mentally retarded. Microcephaly is a consistent feature.

Not all features are present in all patients and, specifically, there are often microcephalic relatives who lack other signs.

Genetics

This is an autosomal dominant disorder which may consist of more than one entity but at least some cases result from heterozygous mutations in KIF11 (10q23.33).  The gene encodes a member of the kinesin family of proteins responsible for cytoplasmic mechanisms that are essential for spindle assembly and function as well in transportation of other intracellular organelles.  Mutations in this gene have also been implicated in familial exudative vitreoretinopathy (FEVR) and there is phenotypic overlap with the condition described here.

It is not unusual for microcephalic individuals to also have chorioretinal dysplasia and/or pigmentary retinopathy.  See microcephaly, chorioretinal dysplasia, mental retardation (156590), for a somewhat similar autosomal dominant condition, as well as microcephaly with chorioretinopathy, AR (251270) for an autosomal recessive condition with this combination.  Neither of these conditions is associated with congenital lymphedema, however.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment is known.

References
Article Title: 

Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Heon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations. JAMA Ophthalmol. 2014 Aug 14.

PubMed ID: 
25124931

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations

Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S. Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. Eur J Hum Genet. 2013 Nov 27.  [Epub ahead of print).

PubMed ID: 
24281367

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. Am J Hum Genet. 2012 Jan 24. [Epub ahead of print].

PubMed ID: 
22284827

Chorioretinopathy with Microcephaly 1

Clinical Characteristics
Ocular Features: 

The ocular features have not been well described.  Small corneas, hyperopia, pale optic nerves and a variety of pigmentary changes in the retina have been reported.  The latter may consist of diffuse, fine or granular pigmentary changes.  Areas of pigmentary atrophy are often associated with patchy areas of pigmentary clumping.  These changes are usually located posterior to the equator.  Choroidal vessels may be sparse where the RPE is absent.  It has been suggested that the patchy pattern of retinal pigmentation resembles ocular toxoplasmosis.  Strabismus is common.  One report suggests microphthalmos in a patient.  Vision has been reported as subnormal from the first year of life but no quantitative data are available.

Systemic Features: 

Microcephaly is a consistent feature.  The forehead is steeply sloped but facial size appears normal.  The palate is highly arched.  Patients often have hyperactive deep tendon reflexes and walk with a shuffling gait.  Children are often hyperactive and highly social.  Intelligence quotients are usually subnormal. No lymphedema has been reported.  At least some patients have cutis marmorata.

On MRI diffuse pachygryria is seen.  The vermis is hypoplastic and the surface area of the corpus callosum is reduced to half of normal. 

Genetics

 Parental consanguinity was present in two reported families and pedigrees are consistent with autosomal recessive inheritance with homozygous mutations of TUBGCP6 (22p22) responsible.

This presumed recessive disorder appears to be different than the autosomal dominant disorder of lymphedema, microcephaly, and chorioretinal dysplasia  (MCLMR) (152950) although molecular confirmation is lacking.

For somewhat similar disorder see Chorioretinopathy with Microcephaly 2 (616171).

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Treatment is supportive.

References
Article Title: 

Genetic mapping and exome sequencing identify variants associated with five novel diseases

Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7(1):e28936. Epub 2012 Jan 17. PubMed PMID: 22279524.

PubMed ID: 
22279524

Retinitis Pigmentosa 2, X-Linked

Clinical Characteristics
Ocular Features: 

Retinitis pigmentosa consists of a group disorders with great clinical and genetic heterogeneity.  The ocular disease is characterized by night blindness, field constriction, and pigmentary changes in the retina.  The later is sometimes described as having a 'bone corpuscle' appearance with a perivascular distribution.  A ring scotoma is sometimes evident.  Age of onset and rate of progression is highly variable, even within families.

The X-linked form described here is a pigmentary retinopathy but sometimes labeled chorioretinal degeneration because of the extensive involvement of the choroid.  The clinical picture is sometimes referred to by the out-dated term 'choroidal sclerosis'.  It is often apparent in males during early childhood and they usually have early deterioration in central vision.  Some carrier females experience vision loss and have mild fundus abnormalities but these do no usually appear until middle age and are usually slowly progressive.  The ERG shows abnormalities in both sexes but these are highly variable.  Older males may have a waxy pallor of the optic nerve.  Posterior subcapsular cataracts are common.  The vitreous may contain fine, colorless particles even before fundus changes are evident.  Prognosis is highly variable but many patients eventually become legally blind by the age of 30 years.

Systemic Features: 

None.

Genetics

Mutations in more than 100 genes may be responsible for retinitis pigmentosa but sporadic disease occurs as well.  Between 5 and 10% of individuals have X-linked disease.

In this form of X-linked retinitis pigmentosa mutations in RP2 (Xp11.3) have been found.  The frequent occurrence of mild disease in females can cause diagnostic confusion with autosomal dominant RP but the disease in females in the latter disorder is usually as severe as in males.

This type of X-linked retinitis pigmentosa is far less common than RP3 (300029)caused by mutations in RPGR.  The two are clinically similar and genotyping is necessary to distinguish them.

Pedigree: 
X-linked recessive, carrier mother
X-linked recessive, father affected
Treatment
Treatment Options: 

High doses of vitamin A palmitate slow the rate of vision loss but plasma levels and liver function need to be checked at least annually.  Oral acetazolamide can be helpful in reducing macular edema.  Low vision aids and mobility training can be facilitating for many patients.  Cataract surgery may restore several lines of vision at least temporarily.

Several pharmaceuticals should be avoided, including isotretinioin, sildenafil, and vitamin E.

References
Article Title: 

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM. Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat. 2007 Jan;28(1):81-91.

PubMed ID: 
16969763

Heimler Syndrome 2

Clinical Characteristics
Ocular Features: 

Several cases have been reported with macular dystrophy and 'salt-and-pepper' mottling of the RPE extending to the midperiphery with foveal sparing.  Autofluorescence with hyper- and hypo-autofluorescent dots has been observed in the mottled areas of the RPE.  Spectral domain OCT has shown loss of the inner/outer segment boundary with RPE thinning and multiple retinal cysts but the ERG does not show rod-cone dysfunction. Visual acuity and the ocular fundus were normal in one patient until the age of 29 years when her vision dropped to 20/200 in one eye and 20/40 in the other.

Systemic Features: 

Primary dentition may be normal but secondary teeth have enamel hypoplasia (amelogenesis imperfecta).  The nails have Beau lines (transverse ridges) and leukonychia (white spots).  Severe sensorineural hearing loss develops sometime in the first year or two of life and it may be unilateral. At least one patient was documented to have had normal audiological test results until the age of 3 years.

Psychomotor development is normal at least until sensory deprivation occurs.

Genetics

This is a rare syndrome of ectodermally derived tissue which results from compound heterozygous mutations in the PEX6 gene (6p21.1).  A pair of monozygotic twin girls with this syndrome has been reported.  Parents are phenotypically normal.  No instance of parent-to-child transmission has been noted and it seems likely that this is an autosomal recessive disorder.

Another form of Heimler syndrome (234580) but with compound heterozygous mutations in the PEX1 gene (7q21.2) has been reported.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

One patient has been treated with carbonic anhydrase inhibitors with apparent stabilization of vision.  Low vision aids and assistive hearing devices are likely of benefit for at least some patients.

References
Article Title: 

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF. Spectrum of PEX1 and PEX6 variants in Heimler syndrome. Eur J Hum Genet. 2016 Nov;24(11):1565-1571.

PubMed ID: 
27302843

Macular dystrophy in Heimler syndrome

Lima LH, Barbazetto IA, Chen R, Yannuzzi LA, Tsang SH, Spaide RF. Macular dystrophy in Heimler syndrome. Ophthalmic Genet. 2011 Jun;32(2):97-100.

PubMed ID: 
21366429

Pages

Subscribe to RSS - pigmentary retinopathy