RESUMO
Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel?based testing in RP has proven effective in identifying the causative genetic mutations in 70% and 80% of the patients. This is a retrospective, observational, single?center study of 107 RP patients who had undergone next?generation sequencing?based targeted gene panel testing for IRD genes. These patients were inspected for common phenotypic features to arrive at meaningful genotype–phenotype correlation. Methods: Patients underwent complete ophthalmic examination, and blood was collected from the proband for DNA extraction after documenting the pedigree. Targeted Next Generation Sequencing (NGS) was done by panel?based testing for IRD genes followed by co?segregation analysis wherever applicable. Results: Of the 107 patients, 72 patients had pathogenic mutations. The mean age of onset of symptoms was 14 ± 12 years (range: 5–55). Mean (Best Corrected Visual Acuity) BCVA was 6/48 (0.9 logMAR) (range 0.0–3.0). At presentation, over one?third of eyes had BCVA worse than 6/60 (<1 logMAR). Phenotype analysis with the gene defects showed overlapping features, such as peripheral well?defined chorioretinal atrophic patches in patients with CERKL, PROM1, and RPE65 gene mutations and large macular lesions in patients with RDH12 and CRX gene mutations, respectively. Nummular or clump?like pigmentation was noted in CRB1, TTC8, PDE6A, and PDE6B. Conclusion: NGS?based genetic testing can help clinicians to diagnose RP more accurately, and phenotypic correlations can also help in better patient counselling with respect to prognosis and guidance regarding ongoing newer gene?based therapies.
RESUMO
Purpose: To study the presentation and outcomes of infantile Terson syndrome (TS). Methods: This was a retrospective analysis of 18 eyes of nine infants diagnosed to have TS?related intraocular hemorrhage (IOH). Results: Nine infants (seven males) were diagnosed to have IOH secondary to TS, of which eight infants had imaging features suggestive of intracranial bleed meeting our definite criteria. Median age at presentation was 5 months. In 11 eyes of six infants with suspected birth trauma, the median age of presentation was 4.5 months (range 1–5 months) of which one baby had a history of suction cup?aided delivery and four babies had a history of seizures. Vitreous hemorrhage (VH) was noted in 15 eyes (extensive in 11 eyes). Ten of these eyes showed membranous vitreous echoes, or triangular hyperechoic space with apex at the optic nerve head (ONH) posteriorly and base at the posterior lens capsule anteriorly, with or without dot echoes in the rest of the vitreous cavity, with a configuration of “tornado?like hemorrhage” suggestive of Cloquet’s canal hemorrhage (CCH). Eight eyes underwent lens?sparing vitrectomy (LSV) and one eye underwent lensectomy with vitrectomy (LV). On follow?up, disc pallor and retinal atrophy were noted in 11 and 10 eyes, respectively. The mean follow?up was 62 months (1.5 month–16 years). Visual acuity/behavior improved in all cases at the final follow?up. Developmental delay was noted in four children. Conclusion: Unexplained and altered vitreous hemorrhage with typical ultrasonography (USG) features should raise the suspicion of CCH in TS. Despite early intervention to clear visual axis, anatomical and visual behavior may remain subnormal.