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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 34  |  Issue : 3  |  Page : 262-264

A missing lens-congenital aphakia?


Department of Ophthalmology, Minto Ophthalmic Hospital, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Date of Submission03-Jan-2022
Date of Decision06-Jan-2022
Date of Acceptance20-Jan-2022
Date of Web Publication22-Dec-2022

Correspondence Address:
Dr. Vidharthi Diwakaran
#546, 17th Main Road, 4th Sector HSR Layout, Bengaluru - 560 102, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/kjo.kjo_1_22

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  Abstract 


Congenital aphakia (CA) is a rare disease of the absence of the lens since birth. It may be primary or secondary. Primary aphakia is due to the failure of induction of surface ectoderm to form the lens. It is often associated with ocular maldevelopment. The disappearance of a developed lens by reabsorption or extrusion results in secondary aphakia. A 27-year-old, male patient presented with diminished vision in the left eye since birth, no history of in-utero infection, trauma. On ocular examination, the right eye was normal. The left eye had 30° exotropia; vision was 1/60 with microcornea, corneal opacity, corneal thinning, aphakia, and disc coloboma. B scan revealed posterior staphyloma and aphakia. Congenital Aphakia with associated ocular maldevelopment is a rare case of congenital primary aphakia. It requires a meticulous evaluation and high suspicion to diagnose such a case at birth and follow a multimodal approach to avoid amblyopia and ocular morbidity.

Keywords: Coloboma, Congenital aphakia, microcornea


How to cite this article:
Diwakaran V, Venkataswamy SB, Marijogaiah SS. A missing lens-congenital aphakia?. Kerala J Ophthalmol 2022;34:262-4

How to cite this URL:
Diwakaran V, Venkataswamy SB, Marijogaiah SS. A missing lens-congenital aphakia?. Kerala J Ophthalmol [serial online] 2022 [cited 2023 Feb 2];34:262-4. Available from: http://www.kjophthal.com/text.asp?2022/34/3/262/364697




  Introduction Top


Congenital aphakia (CA) means the absence of lens since birth. It may present along with abnormal ocular structures along with the absence of lens. It being a rare condition its prevalence is unknown. The often observed abnormal maldevelopments include microphthalmia, corneal thinning, anterior segment dysgenesis, colobomas. The disappearance of a lens following development secondary to trauma, extrusion, or absorption, leads to secondary congenital aphakia. In our case, the patient presents with aphakia along with anterior and posterior segment maldevelopment. No trauma, congenital infection, family history makes it a unique presentation.


  Case Report Top


A 27-year-old male patient presented to us with complaints of diminished vision in the left eye since birth. It was associated with whitish discoloration of his left eye since birth. The child was born out of nonconsanguineous marriage, following an uneventful full-term pregnancy. Delivery was by cesarean section, with no history of assisted delivery/birth trauma.

Parents noted the abnormal appearance of the left eye compared to the right and consulted an ophthalmologist. Ocular surgery was advised. The patient was lost to follow up and no intervention was done. At 6 years of age, the patient revisited the ophthalmologist and was advised occlusion therapy, which was attempted, however, no visual improvement was observed, following which poor visual prognosis was explained. Following that patient presented to us 11 years later.

There was no similar history in family members. Systemic illness was nil.

Ocular examination

Right eye: visual acuity was 6/6. The anterior segment, fundus examination, and extraocular movements were normal in the right eye. Left eye [[Figure 1]: Showing left exotropia with perilimbal thinning of the left eye, source-original]: Exotropia of approximately 30°. Visual acuity was 1/60, cornea measured vertically 9 mm and horizontally 9.5 mm, had inferior thinning, diffuse macular grade opacity inferiorly 7 mm × 3 mm, with diffuse stromal haze involving rest of the cornea [[Figure 2]: Left eye corneal opacity inferiorly, approximately 3 mm in height from the inferior limbus and a length of 7 mm (red arrow, source-original).
Figure 1: Left exotropia with perilimbal thinning of the left eye, source-original

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Figure 2: Left eye corneal opacity inferiorly, approximately 3 mm in height from the inferior limbus and a length of 7 mm (red arrow, source-original)

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Sclera

Thinning was noted in the nasal perilimbal area extending up to 2 mm nasally from the limbus. The anterior chamber was deep and optically clear. Iris: Iridodonesis was noted.

Pupil was 3 mm, reacting to light. The pupillary area was jet black, with a tag of a transparent membrane between 12 and 1-clock hours. [[Figure 3]: Optical section of the left eye showing a jet black pupil with a tag of the transparent membrane (red arrow) between 12 and 1 o clock position, source-origina]. Lens: Aphakia.
Figure 3: Optical section of the left eye showing a jet black pupil with a tag of the transparent membrane (red arrow) between 12 and 1 o clock position, source-original

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Fundus of the left eye

Grossly visualized, coloboma involving disc, other details could not be made out due to nondilating pupil (4 mm) and hazy media.

Squint evaluation revealed 30°exotropia with left suppression with corneal opacity with aphakia.

Investigation

B scan: Left eye: Absence of lens, posterior staphyloma.


  Discussion Top


Aphakia – literally meaning A-phakos, i.e., without the crystalline lens. It may congenital or acquired in nature following surgery or trauma.[1]

Congenital aphakia is extremely rare disease. It may be primary or secondary congenital aphakia. Primary congenital aphakia is related to genetic mutations involving PAX 6 and FOXE3 genes.[2],[3] A role of in utero infection with rubella and other viruses have also been implicated in primary congenital aphakia.[2] It often presents with the absence of lens associated with abnormal development of eye involving anterior and posterior segment structures.[2] Associated findings include microphthalmos, nystagmus, thinned-out cornea, maldeveloped iris, ciliary body, trabecular meshwork, retinal dysplasia, choroidal and disc colobomas.[1],[2],[3]

Secondary congenital aphakia: arises due to partial or complete disappearance of the developed lens by absorption or by extrusion, probably the following trauma.[1]

Summary

Our case is one of Congenital Aphakia, in the left eye with sensory exotropia 30 and amblyopia. He has associated microcornea, with corneal thinning with optic disc coloboma.

The above-mentioned findings with a combined involvement of anterior and posterior segment in the eye, with a history devoid of in utero infection, no birth trauma is more in favor of the primary congenital variant. Confirmation of the disease is usually genetic studies. Management is multimodal with the primary goal being the correction of aphakia and preventing amblyopia. However, the late presentation in our case, led to amblyopia making vocational rehabilitation the main role of our treatment.


  Conclusion Top


This case shows that congenital aphakia although very rare, may present, even in isolation and requires a highly vigilant eye to clinch the diagnosis. It requires a meticulous examination to detect the associated ocular maldevelopments and prompt multimodal management of every component to prevent avoidable ocular morbidity.

Although higher diagnostic methods of genetic evaluation may be required to confirm of a case, a thorough ocular evaluation with the basic diagnostic tools will allow diagnosis and management of a case and improve the quality of life for the patient.

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.
Johnson BL, Cheng KP. Congenital aphakia: A clinicopathologic report of three cases. J Pediatr Ophthalmol Strabismus 1997;34:35-9.  Back to cited text no. 1
    
2.
Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, et al. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet 2006;79:358-64.  Back to cited text no. 2
    
3.
Sano Y, Matsukane Y, Watanabe A, Sonoda KH, Kondo H. Lack of FOXE3 coding mutation in a case of congenital aphakia. Ophthalmic Genet 2018;39:95-8.  Back to cited text no. 3
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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Abstract
Introduction
Case Report
Discussion
Conclusion
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