Document Detail


Ophthalmic features of minimal pigment oculocutaneous albinism.
MedLine Citation:
PMID:  8190479     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: The purpose of this study is to describe the heterogeneous phenotype of individuals with an unusual type of albinism--minimal pigment oculocutaneous albinism. METHODS: Nine patients with minimal pigment oculocutaneous albinism were identified and followed for up to 11 years. The criteria were the presence of oculocutaneous albinism in association with low hairbulb tyrosinase activity in the patient and disparate activity in the parents with one parent having normal activity and the other having low tyrosinase activity. Changes in skin, hair, and ocular pigment were followed as the patients matured. As a measure of ocular pigment, iris transillumination and macular transparency were graded according to a previously published scheme. RESULTS: Patients were born with white scalp hair and skin, and nystagmus developed. Visual acuity was reduced to 20/50 to 20/200 for the group, but in one patient vision improved with maturity. Irides were blue. In seven patients, iris pigment developed, which was detected by transillumination with slit-lamp biomicroscopy, including the one patient with improved visual acuity. All patients had foveal hypoplasia, and melanin pigment in the fundi could not be detected by clinical examination. Visual acuity in the group did not correlate directly with the presence or development of iris transillumination or macular transparency. The pedigrees were consistent with an autosomal recessive inheritance pattern. CONCLUSION: This unique type of oculocutaneous albinism has heterogeneous clinical features. Minimal pigment oculocutaneous albinism appears to represent a new type of tyrosinase-related oculocutaneous albinism (OCA1MP).
Authors:
C G Summers; R A King
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Ophthalmology     Volume:  101     ISSN:  0161-6420     ISO Abbreviation:  Ophthalmology     Publication Date:  1994 May 
Date Detail:
Created Date:  1994-06-20     Completed Date:  1994-06-20     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7802443     Medline TA:  Ophthalmology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  906-14     Citation Subset:  IM    
Affiliation:
Department of Ophthalmology, University of Minnesota, Minneapolis.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Albinism, Oculocutaneous / genetics*,  pathology
Child
Child, Preschool
Female
Follow-Up Studies
Hair / enzymology,  pathology
Humans
Male
Monophenol Monooxygenase / metabolism
Nystagmus, Pathologic / pathology
Pedigree
Phenotype
Pigment Epithelium of Eye / pathology
Skin Pigmentation
Visual Acuity
Grant Support
ID/Acronym/Agency:
GM 22167/GM/NIGMS NIH HHS
Chemical
Reg. No./Substance:
EC 1.14.18.1/Monophenol Monooxygenase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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