Triads in Ophthalmology

A crossword on the various triads in Ophthalmology DOWN 1. Unilateral deafness + corneal anaesthesia + lower motor neuron facial nerve palsy is pathognomonic of what tumour 4. Bull's eye maculopathy + fundus flavimaculatous flecks + silent choroid on fundus fluorescein angiography 5. Urethritis + polyarthritis + conjunctival inflammation 7. Optic trophy + optociliary shunt vessels + painless, progressive, monocular vision loss 8. Nystagmus + head nodding + torticollis 10. Bilateral optic nerve hypoplasia + absence of septum pellucidum and corpus callosum + pituitary anomalies 11. Simultagnosia + optic ataxia + acquired oculomotor apraxia ACROSS 2. Aphthous ulcers + genital ulcers + uveitis 3. Branch retinal vein occlusion + encephalopathy + hearing loss 6. Metabolic disorder causing bilateral dendriform keratitis + hyperkeratotic lesions of palms and soles + intellectual disability 9. Pulsatile proptosis + conjunctival chemosis + ocular bruit is _________ trial 12. Chronic progressive external ophthalmoplegia + retinal pigment dystrophy + cardiac conduction defects 13. ocular anomalies + sensorineural hearing loss + haemorrhagic nephropathy 14. Rhegmatogenous retinal detachment + cells in anterior chamber + raised intraocular pressure 15. Chorioretinal lacunae + agenesis of corpus callosum + infantile spasms ANSWERS OSCE A 4-year-old girl born out of third-degree consanguinity presented to us with night blindness. On examination, her best-corrected visual acuity was LogMAR 0.1 in both the eyes. Anterior segment was within normal limits, and posterior segment findings are as below: [Figures 1 and 2]. Further evaluating with an ancillary investigation [Figure 2] aided us in clinching the possible diagnosis:Figure 1: Ultrawide field fundus autofluorescence (FAF) photographs of the right (a) and left eye (b)Figure 2: Ultrawide field fundus photographs of the right (a) and left eye (b)QUESTIONS Describe the findings in Figures 1-3 What is the most probable diagnosis? What is the inheritance pattern and gene involved in this presentation? What are the other phenotypic fundus findings associated with this condition? What is the role of OCT-A in this case? Figure 3: Scotopic and photopic electroretinogramANSWERS Ultrawide field fundus imaging (OPTOS) showing posterior pole nummular intraretinal yellow dots with a peripheral rim with an area of subretinal fibrosis inferotemporal to the macula in the left eye [Figure 2a and b].Corresponding fundus autofluorescence FAF photograph with hyperautofluorescent signals in the posterior pole and midperipheral hyperautofluorescent ring at the retinal pigment epithelium level [Figure 1a and b]Characteristic electroretinogram ERG depicting non-recordable single-flash response with delayed and exaggerated combined and photopic responses [Figure 3].The above findings are pathognomonic of enhanced S-cone syndrome (ESCS) Enhanced S-cone syndrome is a rare autosomal recessive hereditary disorder characterised by supernormal short wavelength sensitive (S) cones because of a mutation in the NR2E3 gene that encodes photoreceptor differentiation during embryogenesis.[1] There is uncontrolled differentiation of the progenitor cells to S cones at the cost of rods and other cone subtypes. ERG supplemented with genetic testing provides a definitive diagnosis. Other typical phenotypic features include clumped pigmentary retinopathy involving central and midperipheral retina, subretinal fibrosis and macular schisis. Optical coherence tomography (OCT) and OCT angiography are useful to delineate the extent of involvement of inner and outer nuclear layer and the capillary network, respectively.[2] Serial OCTs can help in monitoring structural changes over a span of time, exact layer of involvement of schitic spaces, degree of vascular involvement, and help us correlate with the vision potential. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.