It is an Alport syndrome, not a simple hypertensive retinopathy

Aruna Kumari Gadde; Arjun Srirampur; Sunny Manwani; Satish Agraharam

doi:10.4103/ijo.IJO_426_18

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Year : 2018 | Volume : 66 | Issue : 9 | Page : 1319-1321

It is an Alport syndrome, not a simple hypertensive retinopathy

Aruna Kumari Gadde¹, Arjun Srirampur¹, Sunny Manwani², Satish Agraharam²
¹ Department of Cataract and Refractive Surgery, Anand Eye Institute, Hyderabad, Telangana, India
² Department of Retina, Anand Eye Institute, Hyderabad, Telangana, India

Date of Submission	21-Mar-2018
Date of Acceptance	22-May-2018
Date of Web Publication	20-Aug-2018

Correspondence Address:
Dr. Arjun Srirampur
Department of Cataract and Refractive Surgery, Anand Eye Institute, Habsiguda, Hyderabad - 500 007, Telangana
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/ijo.IJO_426_18

Abstract

Keywords: Flecked retinopathy, hypertensive retinopathy, lenticonus

How to cite this article:
Gadde AK, Srirampur A, Manwani S, Agraharam S. It is an Alport syndrome, not a simple hypertensive retinopathy. Indian J Ophthalmol 2018;66:1319-21

How to cite this URL:
Gadde AK, Srirampur A, Manwani S, Agraharam S. It is an Alport syndrome, not a simple hypertensive retinopathy. Indian J Ophthalmol [serial online] 2018 [cited 2022 May 24];66:1319-21. Available from: https://www.ijo.in/text.asp?2018/66/9/1319/239361

Alport syndrome is a rare inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities.^[1] It is caused by mutations in type IV collagen. The progressive damage to the basement membrane containing mutated form of type 4 collagen leads to microscopic hematuria, sensorineural deafness, anterior lenticonus, and progressive kidney dysfunction leading to end-stage renal disease.^[1]

Case

A 26-year-old female was referred to our institute with a history of gradual, painless progressive diminution of vision in both eyes since 1 year. The best-corrected visual acuity was 6/60 (−12D Sph/−1D Cyl 20°) in right eye and 6/18 (−8D Sph/−0.50D Cyl 180°) in left eye. Slit-lamp examination in the right eye revealed a clear lens with anterior lenticonus [Figure 1]a and posterior lenticonus [Figure 1]b. Retinoscopy revealed a central oil droplet reflex [Figure 1]c. Slit-lamp examination of the left eye revealed anterior capsular opacity [Figure 2]a. She also gave history of progressive hearing loss. Fundus examination showed grade 4 hypertensive retinopathy in both eyes [Figure 1]d and [Figure 2]b. Anterior segment ocular coherence tomography (OCT) of the right eye showed a conical protrusion of the anterior lens capsule [Figure 3]a and left eye showed a hyperreflective opacity on the anterior capsule suggestive of a break and fibrosis of the capsule [Figure 3]b. Retinal OCT showed intraretinal hard exudates in both eyes and no change in central macular thickness [Figure 4]a and [Figure 4]b.

Figure 1: (a) Right eye slit section showing anterior lenticonus, (b) right eye slit section showing posterior lenticonus, (c) right eye anterior segment photograph showing oil droplet reflex, and (d) right eye fundus picture showing mild optic disc edema, severe arteriolar attenuation, increased arteriovenous crossing changes, and multiple intraretinal hard exudates around the macula

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Figure 2: (a) Left eye anterior segment photographs showing anterior capsular opacity and (b) left eye fundus picture showing mild optic disc edema, severe arteriolar attenuation, increased arteriovenous crossing changes, and multiple intraretinal hard exudates around the macula

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Figure 3: (a) Right eye anterior segment optical coherence tomography showing conical protrusion in the anterior lens capsule and (b) left eye anterior segment optical coherence tomography showing hyperreflective anterior capsular opacity

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Figure 4: (a) Right eye macular optical coherence tomography scan showing intraretinal hard exudates and (b) left eye macular optical coherence tomography scan showing intraretinal hard exudates

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Discussion

Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities.^[1] Mutations in COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in the absence of collagen IV α 3α 4α 5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning.^[2] The demonstration of lenticonus is diagnostic for Alport syndrome.^[3] The anterior lenticonus was not clearly evident in the left eye due to rupture of the anterior capsule resulting in fibrosis of the capsule. Posterior lenticonus also occurs but is less common.^[4]

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

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2.	Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 1990;248:1224-7.
3.	Streeten BW, Robinson MR, Wallace R, Jones DB. Lens capsule abnormalities in Alport's syndrome. Arch Ophthalmol 1987;105:1693-7.
4.	Vedantham V, Rajagopal J, Ratnagiri PK. Bilateral simultaneous anterior and posterior lenticonus in Alport's syndrome. Indian J Ophthalmol 2005;53:212-3. [PUBMED] [Full text]