Retinitis pigmentosa with iris coloboma due to miR-204 gene variant in a Chinese family.

PURPOSE: To characterize the phenotype and genotype of a Chinese family with autosomal-dominant retinitis pigmentosa (RP) accompanied by iris coloboma. METHODS: The proband, a 34-year-old male, was examined with his family by using fundus photography, optical coherence tomography (OCT), autofluorescence, and full-field electroretinography (ffERG). Genetic analyses were conducted through whole-exome sequencing (WES) to screen for variations. RESULTS: Three members of this Chinese family were shown to be bilateral iris coloboma. The male proband and his mother exhibited typical RP feature. The proband's late grandfather had been documented manifestation of iris coloboma. The mode of inheritance was confirmed to be autosomal dominance. Through linkage analysis and WES, a heterozygous variation in the miR-204 gene (n.37C>T), a noncoding RNA gene, was identified in these three members. CONCLUSIONS: In this third independent and the first Asian family, the existence of a miR-204 variant associated with RP accompanied by iris coloboma was confirmed. Our findings reinforce the significance of miR-204 as an important factor influencing visual function in the retina. When phenotypes like RP accompanied by iris coloboma in an autosomal-dominant pattern, including in Chinese patients, miR-204 aberrations should be considered.

Optical coherence tomography in diagnosis of early primary open angle glaucoma / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To evaluate the clinical value of retinal nerve fiber layer (RNFL) thickness, optic disc parameters and macular thickness by optical coherence tomography (OCT) in early diagnosis of primary open angle glaucoma (POAG). METHODS: Sixty-five patients (eighty-five eyes) were selected as a study group and fifty-two normal people (seventy-eight eyes) were selected as a control group. The retinal nerve fiber layer thickness, optic disc parameters, including cup/disc(C/D) rate, cup area (CA), cup volume (CV), disc area (DA), rim area (RA) and rim volume(RV),and macular thickness were detected by Cirrus HD-OCT. The data were compared and analyzed. RESULTS: The retinal nerve fiber layer thickness of superior, inferior, temple, nasal and average in the study group were all significantly thinner than those of the control group (P<0.001). The cup area, cup volume and cup/disc ratio in the study group were significantly higher than those of the control group (P<0.001); while the rim area and rim volume in the study group were significantly lower than those of the control group (P<0 001). But the disc area was not significantly different between two groups(P>0.05). The macular thickness of superior, inferior, temple and nasal in the study group were all significantly thinner than those of the control group (P<0.001). CONCLUSION: OCT can detect the change of retinal nerve fiber layer thickness, optic disc parameters and macular thickness, it is helpful for early diagnosis of POAG.