The ophthalmic findings in Cohen syndrome.

[cohen syndrome]

Cohen syndrome is an uncommon autosomal recessive condition comprising a characteristic facial appearance , mental retardation , benign neutropenia , and retinal dystrophy . This study aimed to identify patients with Cohen syndrome from across the United Kingdom in order to define the variability of ophthalmic manifestations .Ophthalmic assessment was undertaken and past ophthalmic records reviewed in 22 patients with classic features of Cohen syndrome .All patients had visual problems which commonly started in the preschool years . 82 % developed strabismus or refractive error during the first 5 years of life . 70 % developed high myopia by the second decade . By contrast with the findings of others , early onset retinal dystrophy was common , occurring in 80 % of study patients under age 5 years . 35 % of patients were registered partially sighted or blind .The ophthalmic abnormalities associated with Cohen syndrome , including high myopia and a generalised , severe retinal dystrophy , are of early onset and frequently result in severe visual handicap . Cohen syndrome should be considered in the young , developmentally delayed child who presents with severe myopia and nyctalopia .

Diseases
Validation

Diseases presenting "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated