SIMULTANEOUS PRESENCE OF MACULAR CORNEAL DYSTROPHY AND RETINITIS PIGMENTOSA IN THREE MEMBERS OF A FAMILY (CASE REPORT)

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NEJAT FARHAD; AGHAMOLLAEI HOSSEIN; PIRHADI SHIVA; JADIDI KHOSROW; NEJAT MOHAMMAD AMIN

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Paper Information

Journal: IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS) Year:2018 | Volume:43 | Issue:2 Page(s): 227-230

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Title

SIMULTANEOUS PRESENCE OF MACULAR CORNEAL DYSTROPHY AND RETINITIS PIGMENTOSA IN THREE MEMBERS OF A FAMILY (CASE REPORT)

Author(s)

Keywords

MACULAR CORNEAL DYSTROPHY

RETINITIS PIGMENTOSA

PEDIGREE

GENETIC DISEASE

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.

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APA: Copy

NEJAT, FARHAD, AGHAMOLLAEI, HOSSEIN, PIRHADI, SHIVA, JADIDI, KHOSROW, & NEJAT, MOHAMMAD AMIN. (2018). SIMULTANEOUS PRESENCE OF MACULAR CORNEAL DYSTROPHY AND RETINITIS PIGMENTOSA IN THREE MEMBERS OF A FAMILY (CASE REPORT). IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS), 43(2), 227-230. SID. https://sid.ir/paper/276576/en

Vancouver: Copy

NEJAT FARHAD, AGHAMOLLAEI HOSSEIN, PIRHADI SHIVA, JADIDI KHOSROW, NEJAT MOHAMMAD AMIN. SIMULTANEOUS PRESENCE OF MACULAR CORNEAL DYSTROPHY AND RETINITIS PIGMENTOSA IN THREE MEMBERS OF A FAMILY (CASE REPORT). IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS)[Internet]. 2018;43(2):227-230. Available from: https://sid.ir/paper/276576/en

IEEE: Copy

FARHAD NEJAT, HOSSEIN AGHAMOLLAEI, SHIVA PIRHADI, KHOSROW JADIDI, and MOHAMMAD AMIN NEJAT, “SIMULTANEOUS PRESENCE OF MACULAR CORNEAL DYSTROPHY AND RETINITIS PIGMENTOSA IN THREE MEMBERS OF A FAMILY (CASE REPORT),” IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS), vol. 43, no. 2, pp. 227–230, 2018, [Online]. Available: https://sid.ir/paper/276576/en

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