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OPHTHALMIC IMAGE
Year : 2021  |  Volume : 59  |  Issue : 3  |  Page : 314-316

Unilateral MRCS syndrome: A rare clinical entity


Department of Community Ophthalmology, Global Hospital Institute of Ophthalmology, Sirohi, Rajasthan, India

Date of Submission13-Jan-2021
Date of Decision01-May-2021
Date of Acceptance22-May-2021
Date of Web Publication09-Sep-2021

Correspondence Address:
Dr. Prateek Jain
Global Hospital Institute of Ophthalmology, Abu Road, Sirohi, Rajasthan - 307 510
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_2_21

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How to cite this article:
Jain P, Pal P, Pattnaik A. Unilateral MRCS syndrome: A rare clinical entity. TNOA J Ophthalmic Sci Res 2021;59:314-6

How to cite this URL:
Jain P, Pal P, Pattnaik A. Unilateral MRCS syndrome: A rare clinical entity. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Dec 1];59:314-6. Available from: https://www.tnoajosr.com/text.asp?2021/59/3/314/325728



A 21-year-old unmarried male presented with a complaint of diminution of vision in the right eye (RE) which further deteriorated during night since childhood. Best-corrected visual acuity (BCVA) was 20/200. Ishihara test revealed red-green deficiency. Contrast sensitivity was reduced to 0.30 on Pelli-Robson chart. RE slit-lamp examination revealed narrow palpebral aperture, microcornea, shallow anterior chamber depth (ACD), and blue-dot cataract. Fundoscopy showed normal cup-disc ratio (0.3:1), circumpapillary and diffuse chorioretinal atrophy, attenuated vasculature, central staphyloma, and peripheral retinal pigmentation [Figure 1]. RE gonioscopy revealed narrow angles. Intraocular pressure was 16 mmHg on Goldmann applanation tonometry. Optical biometry of RE and left eye (LE) showed the following parameters, horizontal white-to-white: 8.85 mm, 12.23 mm, pachymetry: 592 μ, 534 μ, ACD: 2.94 mm, 3.05 mm, lens thickness: 4.06 mm, 4.15 mm, and axial length: 26.31 mm, 23.42 mm, respectively.
Figure 1: (a) Digital photograph of the patient showing right eye microcornea. (b) RE fundus photograph showing peripapillary atrophy with diffuse tessellations and bending vessels in area of posterior staphyloma and peripheral retinal pigmentation. (c) Right eye slit-lamp photograph depicting diffuse pulverulent lenticular opacities: blue-dot cataract. (d) B-scan of right eye showing excavation in posterior pole confirming staphyloma

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Further examination showed horizontal jerk nystagmus with exotropia. B-scan (nasal-axial scan) revealed excavation at posterior pole involving disc as well as macula. LE examination was unremarkable except for the presence of visually insignificant blue-dot cataract with BCVA 20/20.

He had insignificant family and birth history. Furthermore, no other systemic abnormalities were noted. Pigmentary retinopathy is a feature of photoreceptor dystrophy which shows reduced response on electroretinography (ERG) [Figure 2]. The patient was referred to higher center for ERG.
Figure 2: Print out of a full-field electroretinography of patient showing subnormal scotopic and photopic response

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Features of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma syndrome

  • Microcornea
  • Rod-cone dystrophy
  • Pulverulent cataract
  • Posterior staphyloma
  • Narrow anterior chamber angle
  • Peripheral retinal pigment epithelium atrophy
  • Abnormal ERG
  • Subnormal ERG.[1]


Mode of inheritance

Autosomal dominant.

Genetic association

Literature search reveals genetic heterogeneity in this phenotype which is being listed.

  1. Mutation in nanophthalmos-1 locus on chromosome 11[2]
  2. Mutations of VMD2 splicing regulators[3]
  3. Mutations in BEST1 gene (11q13)[4]
  4. ARL2 gene has been mapped recently.[5]


What else to look for

  • Nystagmus
  • Strabismus
  • Nyctalopia.


Why this case is a unique phenotype

In literature, microcornea, rod-cone dystrophy, cataract, and posterior staphyloma (MRCS) syndrome is reported as a rare autosomal dominant bilateral entity. This case has features suggestive of unilateral MRCS syndrome along with no familial history which makes it a unique case.

Treatment

No prophylactic treatment has been reported. The patient requires lifelong monitoring for prevention and management of glaucoma and retinal detachments. Low-vision aids are advised.

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.

Acknowledgments

The authors acknowledge the guidance of Dr. V C Bhatnagar, Head of Department and Medical Superintendent, Global Hospital Institute of Ophthalmology.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Moss H, Moura Coelho N, et al. Eyewiki American Academy of Ophthalmology. Best Disease and Bestrophinopathies. Available from: https://eyewiki.aao.org/Best_Disease_and_Bestrophinopathies. [Last accessed on 2020 Dec 10].  Back to cited text no. 1
    
2.
Reddy MA, Francis PJ, Berry V, Bradshaw K, Patel RJ, Maher ER, et al. A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. Br J Ophthalmol 2003;87:197-202.  Back to cited text no. 2
    
3.
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 2004;45:3683-9.  Back to cited text no. 3
    
4.
The University of Arizona Health Sciences. Hereditary Ocular Disease. Database of Hereditary Ocular Disease. Best Disease. Available from: https://disorders.eyes.arizona.edu/category/alternate-names/best-disease. [Last accessed on 2020 Dec 10].  Back to cited text no. 4
    
5.
Cai XB, Wu KC, Zhang X, Lv JN, Jin GH, Xiang L, et al. Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. Clin Genet 2019;96:61-71.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2]



 

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