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Rosenthal-Kloepfer Syndrome

Clinical Characteristics
Ocular Features: 

The major ocular feature associated with this syndrome is a corneal leukoma in one or both eyes.   It consists of a whitish plaque in the epithelium beginning in the inferior nasal quadrant  and later extending into the Bowman layer in patches throughout the entire cornea except for the peripheral one millimeter.  Initially the lesions are flat but later become elevated with some pigmentation at the edges.  The anterior stroma can become vascularized but the epithelial portion does not.  The leukomata are seen as early as the first year of life and are progressive but they are not present in every patient.  The lateral half of the supraorbital arch has a horn-like enlargement.

Systemic Features: 

Affected individuals are unusually tall and have large hands, feet and chin.  The skin of the hands in the single reported family is described as unusually soft.   The dermal ridge pattern is said to have ‘split ridges’ and may be of diagnostic value even in young children who may not yet have the acromegaloid changes.  The excessive scalp skin undulation differs from the usual cutis verticis gyrate condition by having a coronal orientation as opposed to the usual sagittal folds.  The skin changes may not appear until the fourth or fifth decades of life.   Radiographs show thickening of bone with ‘squaring’ of the middle and proximal phalanges.  There is no evidence of pituitary dysfunction and the sella turcica is normal.

Genetics

Reported pedigrees suggest autosomal dominant inheritance but no locus or gene has been identified.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Various surgical procedures including penetrating keratoplasty have been used but the most effective seems to be an optical iridectomy to enable patients to use the relatively clear corneal areas.

References
Article Title: 

Histiocytic Dermatoarthritis

Clinical Characteristics
Ocular Features: 

This disorder has some ocular similarities to dermochondrocorneal dystrophy of Francois (221800) such as the presence of cataracts, but differs in the absence of corneal opacities.  All patients examined have had glaucoma, uveitis and lens opacities.  Gonioscopy in one patient showed multiple anterior synechiae and another patient, an adult, had buphthalmos.

Systemic Features: 

Skin lesions and stiff, painful joints develop between 4 and 15 years of age.   The cutaneous nodules are found primarily on the hands, ears and the upper extremities.  These are nonulcerating, tender, violaceous to brown in color, and firm in consistency.  Firm subcutaneous plaques apparent only on palpation are also present.  No mucosal lesions or xanthelasmata are present.  Deforming, symmetric arthritis of the hands, feet and elbows is frequently seen with periarticular bony resorption.  The skin of the legs and feet are thick and lichenified.  Histology of the skin lesions shows a granulomatous appearance with a chronic inflammatory infiltrate.  No multinucleated giant cells are seen.

Genetics

A single family with 4 affected sibs born to an affected male parent has been reported which suggests autosomal dominant inheritance.  The mutation, if any, is unknown.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

The glaucoma should, of course, be treated but no treatment is available for the systemic disease beyond orthopedic correction of the joint deformities.

References
Article Title: 

Keratoconus Posticus Circumscriptus

Clinical Characteristics
Ocular Features: 

The posterior corneal surface has area(s) of excavation (indentation) associated with overlying opacification.  The lens-corneal separation is reduced and iridocorneal adhesions are often present.  The clinical picture has been described as ‘posterior conical cornea’ or posterior keratoconus.

Systemic Features: 

The neck is short and has webbing.  The facies appear ‘coarse’, the posterior hairline is low, the nose is prominent, digits are short, and the vertebral anomalies may lead to scoliosis.  Individuals are short of stature and brachydactyly is often present.  Developmental delays and mental retardation are usually features.  Other variable anomalies have been reported.

Genetics

Autosomal recessive inheritance seems most likely in view of the family patterns.  Based on the few families reported, it is uncertain if this is a single entity with variable expression or a combination of disorders.  No gene or locus has been associated with this condition.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment beyond surgical repair of the cleft lip and palate or scoliosis is available.  Peripheral iridotomies have been done in the presence of shallow anterior chambers.

References
Article Title: 

Gorlin-Chaudhry-Moss Syndrome

Clinical Characteristics
Ocular Features: 

Orbital hypoplasia, short, abnormally slanted (up or down) lid fissures, and sometimes lid notching (colobomas?) are characteristic facial features as are bushy eyebrows and synophrys.  Lacrimal duct stenosis has been noted.  The eyes are described as 'small' but no ophthalmological examination has been performed to document microphthalmia or other ocular anomalies.  No mention is made of visual problems.

Systemic Features: 

Premature closure of the coronal suture and midface hypoplasia lead to striking brachycephaly.  The scalp hairline is low and scalp hair is abundant and coarse.  In fact, hypertrichosis is seen throughout the body.  Hypo- and microdontia with irregularly spaced teeth and a high arched palate are common features.  Clefts of the soft palate has been observed.  The ears can be small and rotated posteriorly.  The labia majora are hypoplastic as are the distal phalanges of the fingers and toes.  Mild syndactyly of the second and third fingers and toes have been described.  The nails may be abormally small.  Conductive hearing loss may be present.  Growth and psychomotor development seem to be normal although some patients have been described to have a 'stocky' build.  The facial features tend to coarsen over time.

Genetics

Autosomal recessive inheritance has been suggested but nothing is known about the gene locus.  All 5 reported patients have been female.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment is known.

References
Article Title: 

Spastic Ataxia 7, with Miosis

Clinical Characteristics
Ocular Features: 

Several large pedigrees have been reported in which both males and females had congenital miosis and decreased pupillary light responses.  The pupils are about 2 mm in size and have been described as 'fixed' since they do not dilate in low light or constrict in bright light.  They also do not respond well to mydriatics.  Several individuals also had nystagmus and dysconjugate eye movements.

Optic atrophy is not a consistent feature although several in the original reported family were reported to have this feature which is often found in other spastic ataxia disorders, such as Friedreich's ataxia (229300).

Systemic Features: 

Ataxia in gait and limb motion with pyramidal signs is part of this disorder.  Deep tendon reflexes are increased and plantar responses are often extensor in direction.  Both pyramidal signs and the ataxia progress little.  Affected individuals begin walking late and often have slurred speech.  The IQ's in one family were measured to be less than 90.  CT scans have not revealed cerebellar atrophy.

Genetics

This condition is likely inherited in an autosomal dominant pattern based on one pedigree with 21 members in 4 generations and another with an affected mother and 3 of 5 affected children.  Nothing is known about the locus responsible.

Optic atrophy is also found in autosomal recessive SPAX4 (613672) and in an ill-defined autosomal recessive form of spastic ataxia with mental retardation (270500).

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment is available for this disorder.

References
Article Title: 

Dermochondrocorneal Dystrophy

Clinical Characteristics
Ocular Features: 

A corneal dystrophy is part of this syndrome.  Patients develop confluent, drop-like subepithelial whitish-brown infiltrates of the central cornea with some anterior stromal involvement together with stellate anterior cortical cataracts.  The intervening stroma appears hazy.  The epithelial surface remains intact but may be irregular over the superficial stromal infiltrates. The corneal opacities follow the skin and hand deformities and may be accompanied by a vascularized pannus.  Diagnosis can usually be made in the first decade of life.  Visual acuity in young adults may be reduced to the 20/80 - 20/100 range.

Systemic Features: 

Xanthomatous nodules are primarily located on the pinnae, hands, elbows, and nose.  Most of the nodules are small and primarily of cosmetic significance.  They have also been reported in oral mucosa and gingival tissue.  Hyperplasia of the oral mucosa is common.  Deformities of the hands and feet are also seen.

Genetics

Both autosomal dominant and autosomal recessive modes of inheritance have been proposed but insufficient numbers of families have been reported to be conclusive.

Treatment
Treatment Options: 

Corneal grafts could be visually beneficial but the vascularized pannus increases the risk of rejection.  CO2 laser treatment can reduce the cutaneous chondromes.  Gingival lesions and hyperplasia of the oral mucosa may require surgical treatment.

References
Article Title: 

Fleck Retina of Kandori

Clinical Characteristics
Ocular Features: 

This disorder is usually included in listings of flecked retina syndrome but few reports exist.  Irregular flecks of variable size are distributed in the equator and posteriorly up to but excluding the macula.  Some disturbances of the RPE are seen and some degree of night blindness is usually present.  It seems to be a stable disorder.

Systemic Features: 

No systemic disease is associated.

Genetics

The genetic basis, if any, is unknown.

Treatment
Treatment Options: 

No treatment is known.

References
Article Title: 

Flecked retina disorders

De Laey JJ. Flecked retina disorders. Bull Soc Belge Ophtalmol. 1993;249:11-22. Review.

PubMed ID: 
7952338

Axenfeld-Rieger Anomaly, Plus

Clinical Characteristics
Ocular Features: 

This rare disorder has ocular features of Rieger anomaly with significant systemic features but different than those found in the Axenfeld-Rieger syndrome.  The iris is hypoplastic and the pupil may be distorted secondary to anterior synechiae.  Schwalbe line is prominent.  There are no reports of glaucoma but this may be biased by the small number of patients reported.  Hypertelorism, prominent eyes and strabismus have been described.  Several patients have had absence of the extraocular muscles.

Systemic Features: 

Hypotonia, lax joints, midface hypoplasia, prominent forehead, and short stature have been described.  Some, but not all patients have a degree of psychomotor retardation.  Mild hearing impairment has been reported.

Genetics

This is likely an autosomal dominant disorder in which mutations of the PITX2 and FOXC1 genes common in Axenfeld-Rieger syndrome have been ruled out.  No locus has been identified.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

No treatment is available.

References
Article Title: 

Sorsby Macular Coloboma Syndrome

Clinical Characteristics
Ocular Features: 

Macular colobomas, usually bilateral, are the major ocular feature of this oculoskeletal disorder.  These are non-progressive and are generally heavily pigmented.  Vision is, of course, severely reduced (20/200) and horizontal or pendular nystagmus is a feature in some cases.

Systemic Features: 

The systemic features are primarily skeletal.  Patients have short-limbed dwarfism and brachydactyly of the type B variety.  The thumbs and sometimes the large toes may be broad and bifid.  The distal two phalanges sometimes short, absent, or duplicated and the nails can be dysplastic or absent. Syndactyly of several digits in both hands and feet is common.  The ears are large and protuberant and some patients have deafness.  Oligodontia may be present.  Cartilage can have diastrophic changes.  Mental development is normal.

Genetics

In the few families reported, the transmission pattern is vertical suggesting autosomal dominant inheritance but no mutation or locus has been reported.  The mutation causing brachydactyly type B1 was not present in several cases.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Surgical treatment of digital anomalies can be beneficial.  Low vision aids could be helpful as well.

References
Article Title: 

Nanophthalmos with Retinopathy

Clinical Characteristics
Ocular Features: 

This is a rare syndrome consisting of a pigmentary degeneration of the retina in association with nanophthalmos.  The globe is small with a thickened choroid and sclera and the macula becomes atrophic later in life. Some patients have cystic macular changes early without fluorescein leakage.  The anterior chamber is shallow, the angle is narrow, and the cornea may be small leading to angle closure glaucoma in most patients.  Extensive anterior and posterior synechiae can be seen.  The retina has a postequatorial bone spicule pattern of pigmentation with narrowing of arterial vessels.  Hyperopia is usually present and nightblindness may be noted in the first decade of life.  The ERG early shows loss of rod function and progression of the retinal disease subsequently leads to extinction of all rod and cone responses by midlife.  The EOG may be subnormal and visual fields are severely constricted.  Pallor and crowding of the optic nerve are common.  The vitreous may contain prominent fibrils and fine white granules.  Visual acuity is often 20/200 or worse.

Systemic Features: 

No systemic abnormalities have been reported.

Genetics

This is likely an autosomal recessive disorder based on frequent parental consanguinity and sibships with multiple affected individuals of both sexes.  However, the first reported family in 1958 with 13 affected individuals in 4 generations suggested autosomal dominant inheritance. No molecular defect has been identified.

This may be the same disorder as microphthalmia with retinitis pigmentosa (611040) in which so far no molecular mutation has been identified. 

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Narrow angles with shallow anterior chamber depth should be treated with prophylactic iridotomies.

References
Article Title: 

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