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 Table of Contents  
PHOTO ESSAY
Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 567-568

Nanophthalmos–retinitis pigmentosa–foveoschisis–optic disk drusen syndrome in an Indian patient


1 Uvea Services, Neoretina Eyecare Institute, Hyderabad, Telangana, India
2 Retina Services, Neoretina Eyecare Institute, Hyderabad, Telangana, India

Date of Submission30-Sep-2022
Date of Acceptance22-Nov-2022
Date of Web Publication28-Apr-2023

Correspondence Address:
Abhilasha Baharani
Neoretina Eyecare Institute, Ramchander House, Chapel Road, Nampally, Hyderabad, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJO.IJO_2503_22

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  Abstract 


Keywords: Foveoschisis, MFRP, nanophthalmos, optic disk drusen, retinitis pigmentosa


How to cite this article:
Baharani A, Kodepaka PN. Nanophthalmos–retinitis pigmentosa–foveoschisis–optic disk drusen syndrome in an Indian patient. Indian J Ophthalmol Case Rep 2023;3:567-8

How to cite this URL:
Baharani A, Kodepaka PN. Nanophthalmos–retinitis pigmentosa–foveoschisis–optic disk drusen syndrome in an Indian patient. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 2];3:567-8. Available from: https://www.ijoreports.in/text.asp?2023/3/2/567/374944



A 45-year-old lady, native of Telangana state of South India [Figure 1]a, presented for routine eye evaluation. She had a history of night blindness and progressive visual loss since childhood. There was no family history of similar complaints and no history of consanguinity between parents. On examination, her best corrected visual acuity was 6/120 (OD) and 6/36 (OS) with high hyperopia of +12.0 D. The intraocular pressures were 14 mmHg (OD) and 16 mm Hg (OS). Biomicroscopy revealed clear corneas, shallow anterior chambers, normal pupillary size and reaction, and clear lenses in both eyes [Figure 1]b, [Figure 1]c. Fundus examination revealed bilateral optic disk drusen, retinal vascular attenuation, dull foveal reflex, and bilaterally symmetrical patches of outer retinal atrophy in the midperiphery [Figure 2]a and [Figure 2]b. Optic disk drusen was confirmed on fundus autofluorescence, which showed globular hyperautofluorescence. Outer retinal atrophic patches appeared hypoautofluorescent [Figure 2]c and [Figure 2]d. Swept-source optical coherence tomography showed hyporeflective masses in the optic nerve heads (optic disk drusen), loss of foveal pit, and diffuse macular thickening with discrete bridging elements (foveoschisis) in both eyes [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d. Optical biometry [Supplementary Figure 1][Additional file 1] confirmed the presence of posterior microphthalmos with axial lengths of 15.8 mm (OD) and 15.7 mm (OS), corneal white-to-white diameters of 10.8 mm (OD) and 10.7 mm (OS), and an anterior chamber depth of 2.31 mm (OU). She had concentric reduction of visual fields [Supplementary Figure 2]. Electroretinography showed extinguished rod responses [Supplementary Figure 3]. Hence, a diagnosis of membrane frizzled-related protein (MFRP)-related nanophthalmos–retinitis pigmentosa–foveoschisis–optic disk drusen syndrome was made based on the typical phenotypic presentation, which has been previously described in literature.
Figure 1: (a) Photograph of the patient, a native of South India. (b and c) Slit-lamp photos of the anterior segment, showing clear corneas, shallow anterior chambers, and clear lenses

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Figure 2: (a and b) Ultra-wide field fundus photos showing optic disk drusen, vascular attenuation, dull foveal reflex, and outer retinal atrophic patches. (c and d) Fundus autofluorescence showing globular hyperautofluorescence of optic disk drusen and hypoautofluorescent areas of outer retinal atrophy

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Figure 3: (a, b) Fundus photos of the posterior pole. (c, d) Swept-source OCT showing optic disk drusen as hyporeflective masses and diffuse macular thickening with foveoschisis. OCT = optical coherence tomography

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  Discussion Top


MFRP-related nanophthalmos–retinitis pigmentosa–foveoschisis–optic disk drusen syndrome is a rare autosomal recessive disorder that was first described in 2006.[1] It is characterized by posterior microphthalmos (short axial length, normal corneal diameter, and high hyperopia of + 8–+25 D), optic disk drusen, rod–cone dystrophy, and foveoschisis.[1],[2],[3],[4] It is attributed to biallelic variants caused by homozygous truncating mutations in the MFRP gene, located on chromosome 11q23 and expressed on the retinal pigment epithelium (RPE) and ciliary body.[2],[3],[4] MFRP gene is responsible for maintenance of RPE and photoreceptor function and regulation of eye growth.[1],[2],[3],[4] Though shallow anterior chamber is not a feature of posterior microphthalmos, it has been reported in affected individuals,[1],[2],[4] similar to the present case. These patients have to be closely followed up for the development of glaucoma.[2] The syndrome has been previously described in a Spanish,[2] a Portuguese,[3] and two Mexican[1],[4] families. Our patient presented a strikingly similar characteristic phenotype of a short posterior segment, retinitis pigmentosa, localized foveoschisis, and optic disk drusen, described in these families. This is the first case report of an Indian patient diagnosed with this rare syndrome.

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.



 
  References Top

1.
Ayala-Ramirez R, Graue-Wiechers F, Robredo V, Amato-Almanza M, Horta-Diez I, Zenteno JC. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. Mol Vis 2006;12:1483-9.  Back to cited text no. 1
    
2.
Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz-Cascajosa J, Ayala-Ramírez R, et al. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos–renititis pigmentosa–foveoschisis–optic disk drusen. Am J Ophthalmol 2008;146:323-8.  Back to cited text no. 2
    
3.
Zenteno JC, Buentello-Volante B, Quiroz-González MA, Quiroz-Reyes MA. Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Mol Vis 2009;15:1794-8.  Back to cited text no. 3
    
4.
Godinho G, Madeira C, Grangeia A, Neves-Cardoso P, Santos-Silva R, Brandão E, et al. A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia. Ophthalmic Genet 2020;41:474-9.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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