Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.

BACKGROUND: This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a case presenting a novel mutation in the BEST1 gene and its phenotype in the case's relatives, shedding light on the structural and functional intricacies underlying this rare ophthalmologic disorder. CASE PRESENTATION: A 33-year-old female presented for consultation with a history of bilateral retinal damage accompanied by a complaint of decreased visual acuity, progressive visual field deficit, and night blindness over the past year. Ophthalmic examination revealed a distinctive phenotype, including fibrillar vitreous, pigmented cells, and atrophic hyperpigmented retina in the periphery which was suggestive of a diagnosis of ADVIRC. Genetic testing revealed a heterozygous c.1101-1 G>T variant in BEST1, a novel splice site mutation. Functional analysis confirmed its impact on pre-mRNA splicing, resulting in an in-frame deletion (p(Ser367_Asn579del)). Family investigation revealed varying degrees of ophthalmologic impairment in the patient's mother and half-sister, both carrying the same mutation. CONCLUSIONS: This case report provides the first clinical description of the c.1101-1 G>T mutation in the BEST1 gene associated with ADVIRC. The presence of intrafamilial variability, as evidenced by the differing clinical features observed in the index case and her half-sister, suggests the potential involvement of mechanisms influencing phenotype expression.Abbreviation: ADVIRC : autosomal dominant vitreoretinochoroidopathy; RNA : ribonucleic acid; RPE : retinal pigment epithelium.

Clinical and Virological Characteristics and Prognostic Factors in Viral Necrotizing Retinitis.

Purpose: Describe the clinical and virological characteristics of viral necrotizing retinitis (VNR) and assess its prognostic factors. Methods: Retrospective study (Pitié Salpêtrière Hospital, Paris) of consecutive VNR patients diagnosed and monitored by qPCR on aqueous humor between 2015 and 2019. All patients received induction therapy with intravenous +/− intravitreal injections (IVI) of antivirals. Results: Forty-one eyes of 37 patients with a mean age of 56 years were included. Involved viruses were VZV (44%), CMV (37%) and HSV2 (19%). Acute retinal necrosis represented 51%, progressive outer retinal necrosis 12% and CMV retinitis 37% of eyes. Forty-six percent of patients were immunocompromised. Median BCVA was 0.7 LogMAR at baseline and 0.8 LogMAR after an average of 14.1 months. VNR bilateralized in 27% of cases after 32 months. Retinal detachment (RD) occurred in 27% of cases after a mean duration of 98 days. Factors associated with a "poor BCVA" at 1 month were: advanced age, low baseline BCVA, high vitritis grade and viral load (VL) at baseline and the "slow responder" status (i.e., VL decrease <50% after 2 weeks of treatment). Factors associated with RD were: advanced age, immunocompetence, low baseline BCVA, high vitritis grade at baseline and use of ≤5 IVIs. Conclusions: Clinical factors including advanced age, immunocompetence, low BCVA and high vitritis grade at baseline were associated with a poor prognosis. New virological factors were predictive of a poor outcome: high baseline VL and the "slow responder" status. Sequential intraocular fluid sampling might help prognosticate the outcomes of VNR.

Macular Hemorrhage Due to Age-Related Macular Degeneration or Retinal Arterial Macroaneurysm: Predictive Factors of Surgical Outcome.

OBJECTIVE: The study aimed to determine the outcomes and prognostic factors of vitrectomy, subretinal injection of tissue-plasminogen activator and gas tamponade in macular hemorrhage (MaH) due to age-related macular degeneration (AMD) or retinal arterial macroaneurysm (RAM). METHODS: The study design utilized a multicentric retrospective case series design of consecutive patients undergoing surgery between 2014 and 2019. RESULTS: A total of 65 eyes from 65 patients were included in the study. Surgery was performed after a mean period of 7.1 days. Displacement of MaH was achieved in 82% of the eyes. Mean best-corrected visual acuity (BCVA) improved from 20/500 to 20/125 at month(M)1 and M6 (p < 0.05). At M6, BCVA worsening was associated with an older age at diagnosis (p = 0.0002) and higher subretinal OCT elevation of MaH (p = 0.03). The use of treat and extend (TE) (OR = 16.7, p = 0.001) and small MaH fundus size (OR = 0.64 and 0.74 for horizontal and vertical fundus size, p < 0.05) were predictive of a higher likelihood of obtaining a countable BCVA at M1. Baseline BCVA was predictive of postoperative BCVA (p < 0.05). Retinal detachment and MaH recurrence occurred in 3% and 9.3% of cases at M6. CONCLUSION: MaH surgery stabilizes or improves BCVA in 85% of cases. Younger age at diagnosis, better baseline BCVA figures, smaller subretinal MaH height and use of TE regime were predictive of the best postoperative outcomes.