GAPO syndrome: Four new patients with congenital glaucoma and myelinated retinal nerve fiber layer

This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrel...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-04, Vol.161 (4), p.829-834
Main Authors: Bozkurt, Banu, Yıldırım, Mahmut Selman, Okka, Mehmet, Bitirgen, Gülfidan
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Alopecia
Alopecia - diagnosis
Anodontia - diagnosis
Child
congenital glaucoma
Consanguinity
corneal opacity
Eye Abnormalities - genetics
Eye Abnormalities - pathology
Facies
Female
GAPO syndrome
Glaucoma - congenital
Growth Disorders - diagnosis
Humans
Male
myelinated retinal nerve fiber layer
Nerve Fibers, Myelinated
Optic Atrophies, Hereditary - diagnosis
Pedigree
persistent pupillary membrane
Retina - pathology
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Summary:This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end‐stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye. © 2013 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35734