Ophthalmic Eponyms
Year: 2024
Type: article
Abstract: Guess the EPONYM Down 2. Haemorrhage in the anterior chamber after paracentesis in Fuchs’ uveitis 3. Curvilinear breaks in Descemet’s membrane secondary to stretching of cornea in primary congenital glaucoma 5. Ring-shaped floater created by posterior vitreous detachment 6. Upper eyelid lag on attempted downgaze in thyroid eye disease 8. Pupillary margin inflammatory cell precipitates in uveitis 10. Also known as tobacco dust sign seen in cases of retinal breaks 11. Retinal pigment hyperplasia secondary to regressed choroidal neovascular membrane 14. Accumulation of clusters of proliferated lens epithelial cells after cataract surgery 17. Upward and outward movement of the eye in an attempt to close it Across 1. Reduction in small vessel quantity on optic disc in case of optic atrophy 4. Horizontal inner scarring of upper tarsal conjunctiva in trachoma 7. Fine vertical white lines in the stroma and Descemet’s layers of the cornea in patients with keratoconus 9. Golden brown ring seen at limbus due to copper deposition in Descemet’s layer of the cornea 12. Melanocytic hamartoma of the iris seen in Neurofibromatosis 1 13. Pigment deposition along the intersection of zonular fibres to the lens in patients with pigment dispersion syndrome 15. Brief overshoot twitch of lid retraction characteristic of myasthenia gravis 16. Grey-white discoloration of the retina due to dispersion of the outer segment photoreceptor layer following blunt injury Answers: OSCE A 5- year- old boy presented to our clinic with diminution of vision in both eyes and whitish discoloration of cornea in the left eye since birth with a positive family history of similar complaints in mother. On examination his best corrected visual acuity was logMAR 1 in right eye and hand movements close to face in the left eye. Anterior segment findings are as shown in the Figure 1a and b. Posterior segment findings were unremarkable. Intraocular pressure in right eye was 12 mmHg and 26 mm Hg in the left eye. Nil systemic complaints.Figure 1: Anterior segment diffuse slit lamp imaging of the right eye (a) and the left eye (b) respectivelyQuestions What is the probable diagnosis? What is the inheritance and mutations associated with this condition? Systemic features of this syndrome? Mechanism of glaucoma in these patients? How do you differentiate this case from a case of essential iris atrophy? Answers Both eyes Axenfeld Reiger anomaly with left eye glaucoma. The slit lamp picture shows posterior embryotoxon, polycoria, corneal scarring, corectopia and iris hypoplasia- anterior segment dysgenesis [Figure 1a and b] Axenfled-Rieger syndrome (ARS) is inherited in an autosomal dominant manner in most cases, but it can also occur sporadically. It has complete penetrance with variable expressivity. Mutations in PITX2 on chromosome 4q25, FOXC1 on 6p25, PAX6 on 11p13, and FOXO1A on 13q14 have been associated with formation of ARS. Systemically, patients with ARS can have craniofacial dysmorphism, dental abnormalities, and redundant umbilical skin. The facial dysmorphic features include hypertelorism, telecanthus, maxillary hypoplasia, and a broad, flat nasal bridge. Dental abnormalities may be microdontia, oligodontia, or hypodontia. Rarely, they can have hypospadias, anal stenosis, pituitary abnormalities, growth retardation and cardiac valvular diseases. Various mechanisms of glaucoma in ARS includes anterior segment dysgenesis due to incomplete development of trabecular meshwork or Schlemm canal. Gonioscopy can reveal high insertion of iris which correlates with the severity of glaucoma in these patients. ARS is associated with a 50% risk of glaucoma. Iridocorneal endothelial syndrome and its types present unilaterally with female preponderance. Associated corneal endothelial changes and iris nevus with lack of systemic abnormalities help to differentiate it from ARS. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Authors: Abinaya Valliappan, Hennaav K. Dhillon
Institution: Sankara Nethralaya
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4405807134