The Clinical and Mutational Spectrum of Bardet-Biedl Syndrome in Saudi Arabia.

The retinal features of Bardet-Biedl syndrome (BBS) are insufficiently characterized in Arab populations. This retrospective study investigated the retinal features and genotypes of BBS in Saudi patients managed at a single tertiary eye care center. Data analysis of the identified 46 individuals from 31 families included visual acuity (VA), systemic manifestations, multimodal retinal imaging, electroretinography (ERG), family pedigrees, and genotypes. Patients were classified to have cone-rod, rod-cone, or generalized photoreceptor dystrophy based on the pattern of macular involvement on the retinal imaging. Results showed that nyctalopia and subnormal VA were the most common symptoms with 76% having VA ≤ 20/200 at the last visit (age: 5-35). Systemic features included obesity 91%, polydactyly 56.5%, and severe cognitive impairment 33%. The predominant retinal phenotype was cone-rod dystrophy 75%, 10% had rod-cone dystrophy and 15% had generalized photoreceptor dystrophy. ERGs were undetectable in 95% of patients. Among the 31 probands, 61% had biallelic variants in BBSome complex genes, 32% in chaperonin complex genes, and 6% had biallelic variants in ARL6; including six previously unreported variants. Interfamilial and intrafamilial variabilities were noted, without a clear genotype-phenotype correlation. Most BBS patients had advanced retinopathy and were legally blind by early adulthood, indicating a narrow therapeutic window for rescue strategies.

Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.

Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP.

Assessing patient cosmetic satisfaction after glaucoma drainage device surgery for different patch grafts.

BACKGROUND: The use of a tissue patch graft is common practice with a glaucoma drainage device (GDD). Patch grafts can be visible in the palpebral fissure and may be cosmetically displeasing for some patients. The aim of this study was to report the cosmetic satisfaction of pericardial, scleral, and corneal patch grafts related to superior GDD surgery. METHODS: Baseline clinical data were collected for consecutive patients with glaucoma operated between 2014 and 2019 at two tertiary eye care institutions (for superiorly-placed) Ahmad glaucoma valve implant using sclera, cornea and pericardium patch graft. A patient questionnaire that contained 4 concise questions, with a Likert-scale grading relating to cosmetic satisfaction was administered by a telephone-based interview. Responses and scores for each question were compared across patients who received the three different types of graft. A binominal logistic regression analysis was used to assess the effects of age, gender, type of graft, number of previous ocular surgeries, and final visual acuity to explain differences. RESULTS: We included 92 patients who met our inclusion criteria (24 patients received a corneal patch graft, 30 who received sclera and 38 who received pericardium). The mean (±SD) age was 50 (±17.5) years, and the average follow up was 20.7 (± 18.6) months. Regardless of the type of patch graft, most (67-84%) of patients were satisfied with the appearance of their eyes. Patients who received cornea or sclera were more likely to report that their eye looked 'abnormal' by others. Younger age was significantly associated with the response to this question. CONCLUSION: Patients are generally satisfied with the appearance of their eye following GDD surgery with each of the patch grafts for superiorly-placed GDDs. Younger patients with cornea or sclera were more likely to report that their eyes looked abnormal.