Journal of Pediatric Ophthalmology and Strabismus

Images in Pediatric Ophthalmology 

Ocular Findings of Revesz Syndrome in a 12-Year-Old Girl

Mihir G. Trivedi, MS; Poonam J. Rai, MS; Shruti P. Shirwadkar, DNB; Harsha S. Pagad, DNB, FMRF; Nayana A. Potdar, MS, FAICO; Chhaya A. Shinde, MS; Akshay Gopinathan Nair, DNB

Abstract

A 12-year old girl presented with gradually progressive diminuition of vision in both eyes and the classic triad of findings associated with dyskeratosis congenita (DC), a rare inherited condition with progressive bone marrow failure: reticulate skin pigmentation over the trunk and neck (Figure 1), nail dystrophy (Figure 2) and white plaques over the tongue and oral mucosa (Figure 3). Best corrected visual acuity in both eyes was 6/60. Fundus examination showed optic atrophy, retinal fibrosis, retinal nerve fiber layer hemorrhages, exudative retinopathy over the posterior pole (Figures 4–5), and periphery, along with pigmentary changes (Figures 6–7) resembling those seen in retinitis pigmentosa. No abnormalities were detected on neuroimaging. Revesz syndrome is a variant of DC characterized by exudative retinopathy and intracranial calcification among other systemic anomalies.1 A mutation in the DC gene 1 (DKC1) at Xq28 results in dysfunction of dyskerin, a protein that is involved in telomere maintenance and ribosomal biogenesis.2 Other ocular findings may include nasolacrimal duct obstruction, retinal detachment, ectropion, entropion, and trichiasis.3 Features of retinitis pigmentosa have also been previously described in Revesz syndrome.4

A 12-year old girl presented with gradually progressive diminuition of vision in both eyes and the classic triad of findings associated with dyskeratosis congenita (DC), a rare inherited condition with progressive bone marrow failure: reticulate skin pigmentation over the trunk and neck (Figure 1), nail dystrophy (Figure 2) and white plaques over the tongue and oral mucosa (Figure 3). Best corrected visual acuity in both eyes was 6/60. Fundus examination showed optic atrophy, retinal fibrosis, retinal nerve fiber layer hemorrhages, exudative retinopathy over the posterior pole (Figures 4–5), and periphery, along with pigmentary changes (Figures 6–7) resembling those seen in retinitis pigmentosa. No abnormalities were detected on neuroimaging. Revesz syndrome is a variant of DC characterized by exudative retinopathy and intracranial calcification among other systemic anomalies.1 A mutation in the DC gene 1 (DKC1) at Xq28 results in dysfunction of dyskerin, a protein that is involved in telomere maintenance and ribosomal biogenesis.2 Other ocular findings may include nasolacrimal duct obstruction, retinal detachment, ectropion, entropion, and trichiasis.3 Features of retinitis pigmentosa have also been previously described in Revesz syndrome.4

References

  1. Revesz T, Fletcher S, al-Gazali LI, DeBuse P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?J Med Gen. 1992;29:673–675. doi:10.1136/jmg.29.9.673 [CrossRef]
  2. Marrone A, Walne AJ, Dokal I. Dyskeratosis congenita telomerase, telomeres and anticipation. Curr Opin Genet Dev. 2005;15:249–257. doi:10.1016/j.gde.2005.04.004 [CrossRef]
  3. McElnea EM, van der Spek N, Smith O, Fitzsimon S, Patel CK, O'Marcaigh A. Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity. J AAPOS. 2013;17:634–636. doi:10.1016/j.jaapos.2013.07.016 [CrossRef]
  4. Riyaz A, Riyaz N, Jayakrishnan MP, Mohamed Shiras PT, Ajith Kumar VT, Ajith BS. Revesz syndrome. Indian J Pediatr. 2007;74:862–863. doi:10.1007/s12098-007-0155-2 [CrossRef]
Authors

From the Department of Ophthalmology, Lokmanya Tilak Municipal Medical College & General Hospital, Mumbai, India (MGT, PJR, SPS, HSP, NAP, CAS); Advanced Eye Hospital & Institute, Mumbai, India (AGN); and Aditya Jyot Eye Hospital, Mumbai, India (AGN).

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Akshay Gopinathan Nair, DNB, Department of Ophthalmology, Lokmanya Tilak Municipal Medical College & General Hospital, Dr. Babasaheb Ambedkar Road, Sion West, Mumbai, Maharashtra 400022, India. E-mail: akshaygn@gmail.com

10.3928/01913913-20160122-04

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