Simultaneous Presence of Macular Corneal Dystrophy and Retinitis Pigmentosa in Three Members of a Family

Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder w...

Full description

Saved in:
Bibliographic Details
Published inIranian journal of medical sciences Vol. 43; no. 2; pp. 227 - 230
Main Authors Nejat, Farhad, Aghamollaei, Hossein, Pirhadi, Shiva, Jadidi, Khosrow, Nejat, Mohammad Amin
Format Journal Article
LanguageEnglish
Published Iran Shiraz University of Medical Sciences 01.03.2018
Iranian Journal of Medical Sciences
Subjects
Case Report
Case studies
Cornea
Diagnosis
Genetic aspects
Genetic disease
Hereditary corneal dystrophies
Macular corneal dystrophy
Mutation
Pedigree
Retinitis pigmentosa
Pedigree
Retinitis pigmentosa
Macular corneal dystrophy
Genetic disease
Online AccessGet full text

Cover

More Information
Summary:Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implicated in different forms of RP. Herein, we report on a 9-member family with 2 girls and 5 boys. Both parents, one of the girls and one of the boys had normal eye vision and another boy had keratoconus. Other children (1 girl and 2 boys) suffered from both MCD and RP. Corneal transplantation and medical supplements were used for MCD and RP during the follow-up period, respectively. Based on the family tree, it seems that the inheritance of both diseases is autosomal recessive. Based on our search of databases, there is no report on the simultaneous presence of MCD and RP. To the best of our knowledge, the present article is the first case report on this topic. Molecular genetic investigation is needed to clarify the mechanism of concurrent MCD and RP.
ISSN:0253-0716
1735-3688
DOI:10.30476/ijms.2018.40524