A Rare Case of Type 3 Usher Syndrome with Bilateral Cystoid Macular Edema Treated with Topical Dorzolamide

Overview

Journal Taiwan J Ophthalmol

Specialty Ophthalmology

Date 2021 Jul 23

PMID 34295626

Authors

Athul Puthalath

Ramanuj Samanta

Neeraj Saraswat

Ajai Agrawal

Anupam Singh

Mahsa Jamil

Affiliations

Soon will be listed here.

Abstract

A 30-year-old female presented with gradually progressive diminution of vision for 1 month, with night blindness for the past 5 years and difficulty in hearing for the past 10 years. Her developmental history and family history were unremarkable. Ocular examination revealed visual acuity of 6/36 in both eyes. Fundus showed features of retinitis pigmentosa with bilateral macular edema. Audiometry revealed bilateral sensorineural hearing loss; although, her vestibular functions were preserved. Clinical diagnosis of Usher syndrome type 3 was made based on normal hearing at birth, delayed presentation of progressive visual and auditory impairment with normal vestibular function, and developmental milestones. Her macular edema resolved after 3 months of treatment with topical dorzolamide therapy. The unique feature of this case is the presence of bilateral macular edema in type 3 Usher syndrome, which is rarely reported in literature.

References

Fishman G, Apushkin M . Continued use of dorzolamide for the treatment of cystoid macular oedema in patients with retinitis pigmentosa. Br J Ophthalmol. 2007; 91(6):743-5. PMC: 1955610. DOI: 10.1136/bjo.2006.107466. View

Garcia-Arumi J, Martinez V, Sararols L, Corcostegui B . Vitreoretinal surgery for cystoid macular edema associated with retinitis pigmentosa. Ophthalmology. 2003; 110(6):1164-9. DOI: 10.1016/S0161-6420(03)00259-8. View

Apushkin M, Fishman G, Grover S, Janowicz M . Rebound of cystoid macular edema with continued use of acetazolamide in patients with retinitis pigmentosa. Retina. 2007; 27(8):1112-8. DOI: 10.1097/IAE.0b013e31805f6b79. View

Makiyama Y, Oishi A, Otani A, Ogino K, Nakagawa S, Kurimoto M . Prevalence and spatial distribution of cystoid spaces in retinitis pigmentosa: investigation with spectral domain optical coherence tomography. Retina. 2014; 34(5):981-8. DOI: 10.1097/IAE.0000000000000010. View

Bakthavatchalam M, Lai F, Song Rong S, Ng D, Brelen M . Treatment of cystoid macular edema secondary to retinitis pigmentosa: a systematic review. Surv Ophthalmol. 2017; 63(3):329-339. DOI: 10.1016/j.survophthal.2017.09.009. View

Genead M, Fishman G . Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome. Arch Ophthalmol. 2010; 128(9):1146-50. PMC: 3696579. DOI: 10.1001/archophthalmol.2010.172. View

Gorovoy I, Gallagher D, Eller A, Mayercik V, Friberg T, Schuman J . Cystoid macular edema in retinitis pigmentosa patients without associated macular thickening. Semin Ophthalmol. 2013; 28(2):79-83. PMC: 5536830. DOI: 10.3109/08820538.2012.760614. View

Friedman T, Schultz J, Ahmed Z, Tsilou E, Brewer C . Usher syndrome: hearing loss with vision loss. Adv Otorhinolaryngol. 2011; 70:56-65. DOI: 10.1159/000322473. View

Karjalainen S, Terasvirta M, Karja J, Kaariainen H . An unusual otological manifestation of Usher's syndrome in four siblings. Clin Genet. 1983; 24(4):273-9. DOI: 10.1111/j.1399-0004.1983.tb00082.x. View

10.

Huckfeldt R, Comander J . Management of Cystoid Macular Edema in Retinitis Pigmentosa. Semin Ophthalmol. 2016; 32(1):43-51. DOI: 10.1080/08820538.2016.1228404. View

11.

Kumar A, Fishman G, Torok N . Vestibular and auditory function in Usher's syndrome. Ann Otol Rhinol Laryngol. 1984; 93(6 Pt 1):600-8. DOI: 10.1177/000348948409300613. View

12.

Fortnum H, Summerfield A, Marshall D, Davis A, Bamford J . Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ. 2001; 323(7312):536-40. PMC: 48157. DOI: 10.1136/bmj.323.7312.536. View

13.

Moller C, Kimberling W, Davenport S, Priluck I, White V, Odkvist L . Usher syndrome: an otoneurologic study. Laryngoscope. 1989; 99(1):73-9. DOI: 10.1288/00005537-198901000-00014. View

14.

Smith R, Berlin C, Hejtmancik J, Keats B, Kimberling W, Lewis R . Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium. Am J Med Genet. 1994; 50(1):32-8. DOI: 10.1002/ajmg.1320500107. View

15.

Strong S, Liew G, Michaelides M . Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. Br J Ophthalmol. 2016; 101(1):31-37. PMC: 5256121. DOI: 10.1136/bjophthalmol-2016-309376. View

16.

Hope C, Bundey S, Proops D, Fielder A . Usher syndrome in the city of Birmingham--prevalence and clinical classification. Br J Ophthalmol. 1997; 81(1):46-53. PMC: 1721995. DOI: 10.1136/bjo.81.1.46. View

17.

Grover S, Apushkin M, Fishman G . Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol. 2006; 141(5):850-8. DOI: 10.1016/j.ajo.2005.12.030. View

18.

Liu X, Angeli S, Rajput K, Yan D, Hodges A, Eshraghi A . Cochlear implantation in individuals with Usher type 1 syndrome. Int J Pediatr Otorhinolaryngol. 2008; 72(6):841-7. DOI: 10.1016/j.ijporl.2008.02.013. View

19.

Ogreden T, Alkin Z, Ozkaya A, Demirkale H, Perente I, Aras C . Evaluation of contrast sensitivity after single intravitreal triamcinolone injection for macular edema secondary to branch retinal vein occlusion. ISRN Ophthalmol. 2014; 2013:549240. PMC: 3914254. DOI: 10.1155/2013/549240. View

20.

Karjalainen S, Terasvirta M, Karja J, Kaariainen H . Usher's syndrome type III: ENG findings in four affected and six unaffected siblings. J Laryngol Otol. 1985; 99(1):43-8. DOI: 10.1017/s0022215100096262. View