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Retinal Detachment with Lattice Degeneration

Clinical Characteristics
Ocular Features: 

Lattice degeneration of the retina is well known to increase the risk of retinal detachment.  Lattice is found in 40% of all rhegmatogenous retinal detachments but is present in only 7-10% of eye bank eyes.  Lattice degeneration by itself can lead to retinal detachment in less than 1% of patients but the risk increases into the 50% range when myopia is also present. 

A four generation pedigree of 88 individuals has been reported in which 22% had lattice without myopia and 6% developed retinal detachments.  The atrophic changes were progressive since among those of the most recent generation, 9.5% had lattice at an average of 11 years whereas 75% in earlier generations had such changes at an average age of 56 years.

Systemic Features: 

No systemic abnormalities have been reported in this disorder.

Genetics

The reported pedigree showed a clear autosomal dominant pattern with male-to-male transmission.

Rhegmatogenous retinal detachments without lattice have also been reported in autosomal dominant patterns but at least some are due to mutations in COL2A1.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

Repair of the retinal detachment is indicated. No information regarding the benefits of prophylactic treatment is available. It may be prudent to counsel patients with this mutation to avoid contact sports and blunt trauma.

References
Article Title: 

Corneal Dystrophy, Recurrent Epithelial Erosions

Clinical Characteristics
Ocular Features: 

Individuals have the onset of recurrent corneal erosions as a result of as yet unknown disease processes.  Onset is in the first decade of life (even in the first year of life)  often with some subepithelial haze or blebs while denser centrally located opacities develop with time.  Erosions often are precipitated by relatively minor trauma and are often difficult to treat, lasting for up to a week.  Fortunately, the erosions become less frequent as patients age and may cease altogether by the fifth decade of life.

Systemic Features: 

No systemic disease is associated with ERED.

Genetics

The few reported families have all had an autosomal dominant pattern of inheritance.  So far no locus or molecular defect has been identified.

The clinical features of this condition are found in other corneal dystrophies and it is likely that at least some of the reported cases may have had other unrecognized corneal conditions.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

The usual corneal erosion treatment of hypertonic solutions, bandage patching, and lubricating ointments may be helpful for acute erosions.  No long term preventative treatment has been found effective.  Corneal transplants remain clear centrally although peripheral opacities may reappear within a few years.

References
Article Title: 

Franceschetti Hereditary Recurrent Corneal Erosion

Lisch W, Bron AJ, Munier FL, Schorderet DF, Tiab L, Lange C, Saikia P, Reinhard T, Weiss JS, Gundlach E, Pleyer U, Lisch C, Auw-Haedrich C. Franceschetti Hereditary Recurrent Corneal Erosion. Am J Ophthalmol. 2012 Mar 7. [Epub ahead of print].

PubMed ID: 
22402249

Biemond Syndrome II

Clinical Characteristics
Ocular Features: 

This disorder may belong to the spectrum of Bardet-Biedl syndromes (209900) but is listed separately because of the prominent association of iris colobomata.  Retinal dystrophy resembling retinitis pigmentosa is also part of this disorder but the rarity of cases precludes a full description of the phenotype.

Systemic Features: 

Underdevelopment of the external genitalia is more prominent in males.  Obesity, hydrocephalus and mental retardation are also features.  Postaxial polydactyly is common.  Renal disease does not seem to be part of this disorder.

Genetics

Little is known about the inheritance or genetic defect responsible.  Colobomas and polydactyly have been found in relatives of patients with Biemond syndrome suggesting that this may be an autosomal dominant disorder with variable penetrance.

Pedigree: 
Autosomal dominant
Treatment
Treatment Options: 

None known.

References
Article Title: 

Sclerocornea

Clinical Characteristics
Ocular Features: 

This is a disorder of the cornea and anterior chamber that is sometimes considered to be a form of anterior segment or mesenchymal dysgenesis.  The primary feature is corneal clouding, most prominent peripherally and extending to the central cornea to a variable extent.  Vascular arcades are usually present over the area of clouding and there is no clear limbal demarcation.  Corneal fibers are often disorganized and larger than normal.  The anterior chamber may appear shallow and the iris usually has a flat appearance, often with a posterior embryotoxon.  Iris processes to the cornea and anterior synechiae are frequently present.  Some degree of microcornea has also been noted in many cases.  Rotary and horizontal nystagmus are uncommon. Sclerocornea may be a feature of cornea plana as well and the distinction between these disorders is unclear, especially in reported dominant pedigrees in which hyperopia is a feature.

Most cases are bilateral but there is often considerable asymmetry between the two eyes.  Visual acuity is dependent on the extent of corneal opacification but may be normal.  It is not a progressive disease.

Systemic Features: 

No systemic abnormalities have been reported.  However, sclerocornea can be a feature of numerous somatic and chromosomal disorders (e.g., oculocerbral syndrome with hypopigmentation (257800 ).

Genetics

No DNA mutations have as yet been found.  Most cases occur sporadically, and others are part of anterior chamber dysgenesis disorders.  However, rare autosomal dominant pedigrees have been reported in which the degree of opacification and anterior chamber anomalies are not as severe as those in which the pattern is most consistent with autosomal recessive inheritance.

Pedigree: 
Autosomal dominant
Autosomal recessive
Treatment
Treatment Options: 

Severe cases in which the central media is compromised may require corneal transplantation.  Glaucoma requires treatment as well.

References
Article Title: 

A review of anterior

Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT. A review of anterior
segment dysgeneses. Surv Ophthalmol. 2006 May-Jun;51(3):213-31. Review.

PubMed ID: 
16644364

Hereditary sclerocornea

Elliott JH, Feman SS, O'Day DM, Garber M. Hereditary sclerocornea. Arch
Ophthalmol. 1985 May;103(5):676-9.

PubMed ID: 
3994576

Neuhauser Syndrome

Clinical Characteristics
Ocular Features: 

This rare disorder is characterized by profound mental retardation and megalocornea together with nonspecific facial features including epicanthal folds, broad nasal root, frontal bossing and antimongoloid lid slanting.

Systemic Features: 

Hypotonia and marked psychomotor retardation are the most prominent systemic features.   Short stature, hypercholesterolemia, seizures and hypothyroidism have also been reported.

Genetics

No specific mutation has been found.  Most cases occur sporadically.  The mode of inheritance is presumed to be autosomal recessive on the basis of parental consanquinity found in occasional parents with multiple affected offspring.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment is available.
 

References
Article Title: 

Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness

Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ. Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhauser Syndrome and Central Corneal Thickness. PLoS One. 2014 Aug 5.

PubMed ID: 
25093588

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

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