Literature DB >> 28140742

Cystoid macular changes on optical coherence tomography in a patient with maternally inherited diabetes and deafness (MIDD)-associated macular dystrophy.

Cynthia X Qian1,2, Kari Branham1, Naheed Khan1, Steven K Lundy1, John R Heckenlively1, Thiran Jayasundera1.   

Abstract

The clinical presentation and optical coherence tomography findings in a patient with maternally inherited diabetes and deafness (MIDD) are presented to highlight the presence of macular cystoid spaces in some patients with this disease. Typically, patients with MIDD demonstrate progression of a pigmentary maculopathy into areas of geographic macular atrophy. At the time of initial visit, the 30-year-old patient had large macular cystoid changes in addition to retinal pigmentary changes in both eyes. The cystoid changes responded to treatment with systemic immunosuppression and a topical carbonic anhydrase inhibitor (CAI), recurred when treated with topical CAI monotherapy, and finally resolved after an intravitreal triamcinolone acetonide injection. Over time, the retinal atrophy continued to progress, but the macular cysts did not recur. The patient received systemic immunosuppression for renal transplantation due to renal failure resulting from focal glomerulosclerosis. There was no evidence of diabetic retinopathy at any time during the five-and-a-half-year follow-up, and the patient retained good visual acuity in both eyes.

Entities:  

Keywords:  Cystoid macular changes; MIDD; mitochondrial mutation; pigmentary macular dystrophy

Mesh:

Substances:

Year:  2017        PMID: 28140742      PMCID: PMC5568973          DOI: 10.1080/13816810.2016.1253106

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


  23 in total

Review 1.  Macular cysts in retinal dystrophy.

Authors:  Anuradha Ganesh; Eliza Stroh; George J Manayath; Sana Al-Zuhaibi; Alex V Levin
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

2.  Mitochondrial retinal dystrophy associated with the m.3243A>G mutation.

Authors:  Paul de Laat; Jan A M Smeitink; Mirian C H Janssen; Jan E E Keunen; Camiel J F Boon
Journal:  Ophthalmology       Date:  2013-06-24       Impact factor: 12.079

3.  Macular pattern dystrophy in patients with deafness and diabetes.

Authors:  C A Bonte; G L Matthijs; J J Cassiman; A M Leys
Journal:  Retina       Date:  1997       Impact factor: 4.256

4.  Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation.

Authors:  P R Smith; S C Bain; P A Good; A T Hattersley; A H Barnett; J M Gibson; P M Dodson
Journal:  Ophthalmology       Date:  1999-06       Impact factor: 12.079

5.  Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.

Authors:  Yu-Hung Lai; Jenina E Capasso; Richard Kaiser; Alex V Levin
Journal:  Ophthalmic Genet       Date:  2016-02-19       Impact factor: 1.803

6.  Population prevalence of the MELAS A3243G mutation.

Authors:  Neil Manwaring; Michael M Jones; Jie Jin Wang; Elena Rochtchina; Chris Howard; Paul Mitchell; Carolyn M Sue
Journal:  Mitochondrion       Date:  2007-01-08       Impact factor: 4.160

7.  Macular pattern dystrophy in MIDD: long-term follow-up.

Authors:  C Ambonville; T Meas; A Lecleire-Collet; M Laloi-Michelin; M Virally; J-P Kevorkian; M Paques; P Massin; P-J Guillausseau
Journal:  Diabetes Metab       Date:  2008-06-30       Impact factor: 6.041

8.  Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.

Authors:  J M van den Ouweland; H H Lemkes; W Ruitenbeek; L A Sandkuijl; M F de Vijlder; P A Struyvenberg; J J van de Kamp; J A Maassen
Journal:  Nat Genet       Date:  1992-08       Impact factor: 38.330

9.  The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.

Authors:  Bruno Guéry; Gabriel Choukroun; Laure-Hélène Noël; Pierre Clavel; Agnès Rötig; Sophie Lebon; Pierre Rustin; Christine Bellané-Chantelot; Béatrice Mougenot; Jean-Pierre Grünfeld; Dominique Chauveau
Journal:  J Am Soc Nephrol       Date:  2003-08       Impact factor: 10.121

Review 10.  Autoimmune retinopathy: a review and summary.

Authors:  John R Heckenlively; Henry A Ferreyra
Journal:  Semin Immunopathol       Date:  2008-04-12       Impact factor: 9.623

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  3 in total

Review 1.  Cystoid macular oedema without leakage in fluorescein angiography: a literature review.

Authors:  Masood Naseripour; Sara Hemmati; Samira Chaibakhsh; Arzhang Gordiz; Leila Miri; Fatemeh Abdi
Journal:  Eye (Lond)       Date:  2022-09-10       Impact factor: 4.456

Review 2.  Optical coherence tomography in the evaluation of retinitis pigmentosa.

Authors:  Jin Kyun Oh; Yan Nuzbrokh; Jose Ronaldo Lima de Carvalho; Joseph Ryu; Stephen H Tsang
Journal:  Ophthalmic Genet       Date:  2020-06-19       Impact factor: 1.274

3.  Fixation behavior in macular dystrophy assessed by microperimetry.

Authors:  Wei-Yu Chiang; Jong-Jer Lee; Yi-Hao Chen; Chih-Hsin Chen; Yung-Jen Chen; Pei-Chang Wu; Po-Chiung Fang; Hsi-Kung Kuo
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-06-09       Impact factor: 3.117

  3 in total

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