Acquired vertical pendular nystagmus in diffuse unilateral subacute neuroretinitis: A diagnostic dilemma

A retinal infectious pathology, an acquired vertical nystagmus, and a suspicious neuroimaging result! Independently, these three entities are not uncommon. However, when they are consecutively observed in a young patient, it ramifies into an intriguing clinical scenario. A 17-year-old diagnosed case of diffuse unilateral subacute neuroretinitis presented to us with acute-onset vertical oscillations. On neuroimaging, she was found to have cerebellar dysgenesis. This case prompted us to revisit the pathogenesis of acquired vertical nystagmus and evaluate whether it resulted from disturbance of afferent (severe visual impairment) or efferent (cerebellar dysfunction) components of the neural integrator mechanism

Atypical association of Duane retraction syndrome and Bardet Biedl syndrome

Duane′s retraction syndrome (DRS) includes changes in palpebral fissure width along with restriction of ocular motility. Bardet Biedl syndrome (BBS) includes presence of retinitis pigmentosa (RP) with obesity, mental retardation, polydactyly and renal abnormalities. We report a case of rare association of DRS with BBS in a seven-year-old child. The ocular motility examination revealed left DRS with esotropia. Fundus examination revealed findings characteristic of an atypical retinitis pigmentosa. The electro-retinogram waveforms were extinguished both for rods and cones. He was diagnosed as a case of BBS on the basis of the ophthalmological findings plus association with the systemic features of obesity, polydactyly, hypogonadism, mental retardation and renal abnormalities. This case gives further evidence of the fact that BBS may be associated with abnormalities of eye movements

Augmented loop myopexy with concurrent intraocular lens implantation for myopic strabismus fixus

Purpose: To evaluate safety profile and surgical outcomes of loop myopexy with concurrent intra-ocular lens implantation in cases of myopic strabismus fixus (MSF). Methods: A retrospective chart review of patients who underwent loop myopexy with concurrent small incision cataract surgery with intra-ocular lens implantation between January 2017 and July 2021 for MSF at a tertiary eye care centre was undertaken. A minimum of 6 months of follow-up after surgery was required for inclusion. The main outcome measures were improvement in alignment postoperatively, improvement in extra-ocular motility postoperatively, intraoperative and postoperative complications and post-operative visual acuity. Results: 12 eyes of 7 patients (male (6): female (1)) underwent modified loop myopexy at a mean age of 46.86 years (range 32-65 years). 5 patients underwent bilateral loop myopexy with intra-ocular lens implantation whereas 2 patients underwent unilateral loop with intra-ocular lens implantation. All eyes underwent additional medial rectus (MR) recession with lateral rectus (LR) plication. At the last follow-up, mean esotropia improved to 16 prism dioptres (PD) (Range: 10-20 PD) from 80 PD (Range:60-90PD), P = 0.016; and success (deviation ≤20PD) was achieved in 73% (95% CI 48 to 89%). Mean hypotropia at presentation was 10 PD (range 6-14 PD), which improved to 0 PD (range 0-9 PD), P = 0.063. Mean BCVA improved from 1.08 LogMar to 0.3 LogMar units. Conclusion: Loop myopexy combined with intra-ocular lens implantation is a safe and effective procedure in the management of patients who have Myopic Strabismus Fixus with visually significant cataract and improves both visual acuity and ocular alignment significantly

Bilateral spontaneous hyphaema in juvenile xanthogranuloma

This report describes a rare occurrence of bilateral, spontaneous, nontraumatic hyphema in a 6 weeks old infant, associated with a small, multiple skin lesions. The diagnosis of juvenile xanthogranuloma was confirmed by histopathological examination of the cutaneous lesions. The hyphaema cleared gradually in 2 weeks time with conservative management

Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.

BACKGROUND: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene therapy. The mutational screenings of RPE65 and other LCA genes are requisite in support of emerging gene specific therapy for LCA. Therefore, we have carried out a comprehensive LCA genes screening using a combined approach of direct sequencing and DNA microarray based Asper chip analysis. METHODOLOGY/PRINCIPAL FINDINGS: Thirty clinically diagnosed index LCA cases from Southern India were screened for coding and flanking intronic regions of RPE65 through direct sequencing. Among thirty, 25 cases excluded from RPE65 mutations were subjected to Asper chip analysis, testing 784 known pathogenic variations in 15 major LCA genes. In RPE65 screening, four different pathogenic variations including two novel (c.361insT & c.939T>A) and two known (c.394G>A & c.361delT) mutations were identified in five index cases. In the chip analysis, seven known pathogenic mutations were identified in six index cases, involving genes GUCY2D, RPGRIP1, AIPL1, CRX and IQCB1. Overall, 11 out of 30 LCA cases (36.6%) revealed pathogenic variations with the involvement of RPE65 (16.6%), GUCY2D (10%), RPGRIP1 (3.3%), AIPL1 (3.3%) and CRX & IQCB1 (3.3%). CONCLUSIONS/SIGNIFICANCE: Our study suggests that such combined screening approach is productive and cost-effective for mutation detection and can be applied in Indian LCA cohort for molecular diagnosis and genetic counselling