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CLINICAL IMAGE
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A comprehensive ocular profile using multimodal imaging systems and surgical outcome in a patient with Alport syndrome


1 Department of Optometry, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India
2 Department of C J Shah Cornea Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India

Date of Submission20-Jul-2021
Date of Decision27-Mar-2022
Date of Acceptance02-Aug-2022

Correspondence Address:
Soumen Sadhu,
C J Shah Cornea Services, Medical Research Foundation, Sankara Nethralaya, 18, College Road, Nungambakkam, Chennai - 600 006, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ojo.ojo_218_21

   Abstract 


We describe a case of a 22-year-old male with Alport syndrome presented with complaints of progressive diminution of vision in both eyes for 8 years. On presentation, the best-corrected visual acuity for distance was 3/60 in both eyes with -30D spherical error. Anterior segment evaluation showed a bilateral central anterior protrusion of the crystalline lens. Pentacam and Anterior segment OCT confirmed steep central anterior protrusion of the lens in both eyes. The Wavefront analysis revealed significant internal higher-order aberrations (high spherical aberration, coma and trefoil) in both eyes. Posterior Segment OCT revealed temporal thinning of the retina and nerve fibre layer in multiple quadrants. Significant improvement in best-corrected visual acuity was observed post clear lens extraction with intraocular lens implantation.

Keywords: Aberrations, aberrometry, Alport syndrome, anterior lenticonus, lenticular myopia



How to cite this URL:
Sadhu S, Balaji JJ, Srinivasan B. A comprehensive ocular profile using multimodal imaging systems and surgical outcome in a patient with Alport syndrome. Oman J Ophthalmol [Epub ahead of print] [cited 2023 Jan 28]. Available from: https://www.ojoonline.org/preprintarticle.asp?id=365462



A 22-year-old male, presented with a progressive, painless diminution of vision in both eyes (OU) for 8 years. He was a known case of autosomal recessive Alport syndrome with mild hearing loss and early glomerular nephritis and was under treatment. He reported similar complaints in his younger brother associated with hearing and renal problems. However, the parents were normal. There was no history of consanguinity. His best-corrected visual acuity (BCVA) for distance and near in OU was 3/60 and N10 @ 10 cm, respectively, with no improvement pinhole. Objective refraction was-30.00Dsph/-1.25 Dcyl × 180 and-32.00 Dsph/-1.50 Dcyl × 180 in OD and OS, respectively. The slit-lamp evaluation was within normal limits except for the prominent anterior protrusion of the crystalline lens in OU [Figure 1]a and [Figure 1]b. Fundus evaluation showed a dull foveal reflex, a normal optic disc with no other abnormalities. Potential acuity meter (PAM; Heine Lambda100 retinometer) and rigid gas permeable contact lens trial revealed a visual potential of 6/12 in OD and 6/9 in OS.
Figure 1: Slit-lamp photograph of the left (a) and the right (b) eye shows the conical slit section of the protruding anterior capsule in the pupillary area, and the corresponding ASOCT image (c and d) showing the anterior cone of the lens with some underlying haze

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Pentacam HR (Oculus Optikgeräte GmbH, Wetzlar, Germany) showed normal anterior and posterior elevation and thickness maps. Wavefront aberrometry with ray-tracing device (iTrace; Tracey Technologies, Houston, TX, USA) revealed increased coma, internal spherical aberration, and a total eye-higher-order aberration (TO-HOA) of 5.009 um in OU with the dysfunctional lens index (DLI) of −0.10. Apart from the prominent protrusion of the anterior lens capsule in anterior segment optical coherence tomography [ASOCT; [Figure 1]c and [Figure 1]d], Retinal-OCT revealed foveal hypoplasia and bilateral temporal thinning of the retinal layers. The retinal nerve fiber layer also showed thinning in multiple quadrants [Figure 2].
Figure 2: Spectral domain optical coherence tomography (Carl Zeiss Cirrus 5000) showing a lateral view through the macula revealing temporal retinal thinning with foveal hypoplasia (OD: inner temporal retina: 258 μm; OS: inner temporal retina: 352 μm; outer temporal retina: 344 μm)

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He was diagnosed with anterior lenticonus secondary to Alport syndrome. Since lenticonus was the primary cause of poor vision, the patient underwent clear lens extraction with foldable intraocular lens implantation. Intraoperative retroillumination images showed the oil droplet reflex secondary to the increased curvature of the anterior lens capsule [Figure 3]. The redundancy of the anterior capsule before the capsulorhexis is shown in [Figure 2]. Postoperatively, BCVA improved to 6/9 and near N6 in OU. Postoperatively, a marked reduction in coma, internal spherical aberration, TO-HOA, and DLI was observed [Figure 4].
Figure 3: Oil droplet sign is intraoperatively seen in retroillumination (a), and redundancy of anterior capsule seep before capsulorhexis (b)

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Figure 4: Preoperative ray-tracing wavefront aberrometry of the right eye (a) and the left eye (c) revealed increased defocus and negative spherical aberration, DLI of -0.10 along with the corresponding simulated Snellen's visual acuity. Significant decrease in all internal higher-order aberrations, total higher-order aberration, and improvement in DLI was noticed postoperatively in the right (b) and left eye (d). Note the improvement in simulated Snellen's visual acuity. DLI: Dysfunctional lens Index

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   Comment Top


Lenticonus is a diagnostic feature of Alport syndrome and is often associated with early-onset renal failure in both X-linked and autosomal recessive disease.[1] The lens capsule is a viscoelastic modified basement membrane composed of several collagen types, including Type IV. Abnormal mutations in the genes encoded in type IV collagen lead to disruption of the capsule's tight junctions.[2],[3] Histopathology of the lens capsule in a patient with Alport syndrome showed high irregularity with multiple fibrillar dehiscence and thinning at the protrusion site, which can progressively cause capsular rupture and subsequent lens opacification.[2],[3] Aberrometry provides the total magnitude of aberrations suffered by the eye and splits it into external and internal aberrations.[4] The DLI is an indicator of aberrations induced by the crystalline lens, which is exceptionally high, thus explaining the decreased optical quality. Postoperatively, there was a marked decrease in aberrations and DLI index, which was reflected by improved visual acuity. Both ASOCT and retinal OCT and also aberrometry[4],[5] are effective tools in evaluating patients with lenticonus. Clear lens extraction and IOL implantation remain the mainstay of management.

Declaration of patient consent

The authors certify that they have obtained patient informed written consent forms. In form2, the patient given his consent for his images and other clinical information to be reported in the journal. The patient understands 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.
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Ocular features in Alport syndrome: Pathogenesis and clinical significance. Clin J Am Soc Nephrol 2015;10:703-9.  Back to cited text no. 1
    
2.
Takei K, Furuya A, Hommura S, Yamaguchi N. Ultrastructural fragility and type IV collagen abnormality of the anterior lens capsules in a patient with Alport syndrome. Jpn J Ophthalmol 2001;45:103-4.  Back to cited text no. 2
    
3.
Citirik M, Batman C, Men G, Tuncel M, Zilelioglu O. Electron microscopic examination of the anterior lens capsule in a case of Alport's syndrome. Clin Exp Optom 2007;90:367-70.  Back to cited text no. 3
    
4.
Kim KS, Kim MS, Kim JM, Choi CY. Evaluation of anterior lenticonus in alport syndrome using tracey wavefront aberrometry and transmission electron microscopy. Ophthalmic Surg Lasers Imaging 2010;41:330-6.  Back to cited text no. 4
    
5.
Xu Y, Hersh PS, Chu DS. Wavefront analysis and Scheimpflug imagery in diagnosis of anterior lenticonus. J Cataract Refract Surg 2010;36:850-3.  Back to cited text no. 5
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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