[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].

OBJECTIVE: To clarify the pathogenicity-related genes and its mutations in an oculocutaneous albinism (OCA) patient from a consanguineous marriage family. METHODS: Polymerase chain reaction (PCR) and automatic DNA sequencing methods, chromosome walking by PCR amplification techniques (PCR-Walking), multiplex PCR in a single PCR tube with 3 primers bridging the breakpoint (Gap-PCR) and bioinformatic analysis were employed for screening the mutations and identifying the novel mutation in the patient and his family. RESULTS: A pathogenic deletion of 6365 bp was found in MATP gene with a range of c.562-1118 (± 2) to c.885 + 4923 (± 2). The patient was homozygous for deletion mutation. CONCLUSION: A large deletion mutation was first detected and identified in OCA4.

Analysis of optic coherence tomography for congenital macular retinoschisis.

PURPOSE: To investigate the pathological characteristics of congenital macular retinoschisis by optic coherence tomography (OCT). METHODS: The data of 7 cases (14 eyes) with congenital macular retinoschisis were collected. Electroretinogram (ERG), fundus fluorecein angiography (FFA) and OCT examination were performed, respectively. RESULTS: The OCT images showed schisis cavity in all eyes. Schisis was confined to the fovea and parafovea in 2 eyes (1 patient). Schisis was involved in entire macular area in 12 eyes (6 patients). Inner nuclear layer (INL) schisis was seen in all eyes. Schisis was located at both INL and outer nuclear layer (ONL)/outer plexiform layer (OPL) in 2 of the 14 eyes. Besides the schisis cavity, small cysts within ganglion cell layer were found in 3 eyes. The small cysts were confined to parafoveal area. The OCT images of both eyes in one patient were similar but not exactly the same or symmetrical. CONCLUSION: Morphology, extension and schisis location in congenital macular retinoschisis have respective diversity.