Iranian Journal of Medical Sciences
Iranian Journal of Medical Sciences

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

Document Type : Case Report(s)

Authors

Farhad Nejat 1
Hossein Aghamollaei 2
Shiva Pirhadi 3
Khosrow Jadidi 4
Mohammad Amin Nejat 3

1 Vision Health Research Center, Tehran, Iran

2 Applied Biotechnology Research Center, Baqiyatallah University of Medical Sciences, Tehran, Iran

3 Department of Biomedical Engineering, Science and Research Branch, Islamic Azad University, Tehran, Iran

4 Department of Ophthalmology, Baqiyatallah University of Medical Sciences, Tehran, Iran

https://doi.org/10.30476/ijms.2018.40524
Abstract
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.

Keywords

Macular corneal dystrophy
Retinitis pigmentosa
Pedigree
Genetic disease
Iranian Journal of Medical Sciences
Volume 43, Issue 2 - Serial Number 2
92
March 2018
Pages 227-230


  • Received 25 July 2016
  • Revised 16 March 2020
  • Accepted 24 December 2018

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