PURPOSE: To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP). METHODS: Ophthalmological examinations were performed to diagnose FA and RP. Mutational analysis of RDH5 was performed. RESULTS/ CONCLUSIONS: The mother was diagnosed with FA, and 3 children were diagnosed with RP. The proband's mother, brother, and sister had a novel mutation c.689_690CT > GG in RDH5. The proband and mother had a previously reported mutation c.928delCinsGAAG. Consequently, the mother's FA was caused by compound heterozygous mutations. Further studies will be needed to determine the gene responsible for children's RP.
PURPOSE: To identify mutations in the RDH5 gene in a family with a mother having fundus albipunctatus (FA) and 3 children with retinitis pigmentosa (RP). METHODS: Ophthalmological examinations were performed to diagnose FA and RP. Mutational analysis of RDH5 was performed. RESULTS/ CONCLUSIONS: The mother was diagnosed with FA, and 3 children were diagnosed with RP. The proband's mother, brother, and sister had a novel mutation c.689_690CT > GG in RDH5. The proband and mother had a previously reported mutation c.928delCinsGAAG. Consequently, the mother's FA was caused by compound heterozygous mutations. Further studies will be needed to determine the gene responsible for children's RP.
Authors: Muhammad Ajmal; Muhammad Imran Khan; Kornelia Neveling; Yar Muhammad Khan; Syeda Hafiza Benish Ali; Waqas Ahmed; Muhammad Safdar Iqbal; Maleeha Azam; Anneke I den Hollander; Rob W J Collin; Raheel Qamar; Frans P M Cremers Journal: Mol Vis Date: 2012-06-13 Impact factor: 2.367
Authors: Anna Skorczyk-Werner; Przemysław Pawłowski; Marta Michalczuk; Alicja Warowicka; Anna Wawrocka; Katarzyna Wicher; Alina Bakunowicz-Łazarczyk; Maciej R Krawczyński Journal: J Appl Genet Date: 2015-03-28 Impact factor: 3.240