A novel heterozygous c.733 T > G MYOC mutation associated with juvenile-onset open-angle glaucoma in a Chinese family.

AIMS: To detect mutations in juvenile-onset open-angle glaucoma in a Chinese family and to describe the characteristic ophthalmic phenotypes of this pedigree. METHODS: There were 14 individuals in this four-generation pedigree. All living members of the family underwent comprehensive ophthalmic examinations. Five patients presented with elevated intraocular pressures. All of them shared early-onset disease, with a mean onset age of 14.4 years and continuing aggressive damage to their optic nerves. Hyperpigmentation in the trabecular meshwork and sometimes-broad iris processes were noted in this family using gonioscopy. All exons of candidate genes (MYOC, OPTN, CYP1B1) were amplified using the polymerase chain reaction, and analysed with an ABI 3700XL Genetic Analyser. RESULTS: A heterozygous missense mutation in exon 3 (c.733 T > G) of the MYOC gene was found in the five JOAG patients and one 7-year-old boy with no ophthalmic manifestation of glaucoma, but it was absent in other members of the family and in the controls. This mutation resulted in a transversion of cysteine to glycine (Cys245Gly). CONCLUSIONS: We concluded the novel MYOC c.733 T > G mutation found in a Chinese family with JOAG caused a severe type of JOAG exhibiting early onset, high IOP, and severe optic nerve damage. Interestingly, unlike other reported MYOC mutation families, our patients exhibited marked angle pigmentation and iris processes.

A novel GPR143 mutation in a Chinese family with X­linked ocular albinism type 1.

Ocular albinism type 1 (OA1) is a genetic disorder characterized by reduced eye pigmentation and nystagmus, which is often accompanied by decreased visual acuity, strabismus and other symptoms, whereas skin and hair color remain normal. The present study aimed to assess the clinical features and perform genotype analysis of a family with OA1, and to determine the disease­causing mutation. A total of 18 family members (nine affected patients and nine normal subjects) from Hainan, China, were recruited to the present study in December 2017. A detailed clinical ophthalmic examination was performed for all participants, including a visual acuity test, anterior segment slit lamp examination, eye fundus examination and optical coherence tomography. Mutations in the G protein­coupled receptor 143 (GPR143) gene were determined by DNA sequencing assays and polymerase chain reaction assays for deletions; all exon coding sequences, exons at the 5'­ and 3'­ends, and non­coding region sequences of intron splicing were assessed. Within the family, nine male patients exhibited disease occurrence at the age of 0­6 months. All patients presented with different degrees of iris depigmentation, horizontal jerk nystagmus, foveal hypoplasia and reduced visual acuity. The fundus of only one patient exhibited choroid coloboma; in the remaining patients, their fundi exhibited different degrees of irregular retinal depigmentation. The mutation c.360+5G>T in the GPR143 gene was identified in this family. In conclusion, the present study identified the splicing mutation c.360+5G>T in the GPR143 gene in a Chinese family with OA1 and successfully identified the site. To the best of our knowledge, there have been no previous reports regarding this mutation in any major genome databases; therefore, this outcome may enrich the mutation spectrum of the GPR143 gene.