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Year : 2023  |  Volume : 3  |  Issue : 2  |  Page : 545-546

Megalocornea and microspherophakia in homocysteinemia: A rare association

1 Department of Glaucoma Services, Aravind Eye Hospital, Madurai, Tamil Nadu, India
2 Department of Vitreo-Retinal Services, Aravind Eye Hospital, Madurai, Tamil Nadu, India

Date of Submission10-Oct-2022
Date of Acceptance21-Nov-2022
Date of Web Publication28-Apr-2023

Correspondence Address:
Sameer Chaudhary
Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJO.IJO_2650_22

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Keywords: Homocysteinemia, homocystinuria, megalocornea, microspherophakia, secondary glaucoma, umbilical hernia

How to cite this article:
Pillai MR, Chaudhary S, Gandhi NP, Varshney T, Kannan NB. Megalocornea and microspherophakia in homocysteinemia: A rare association. Indian J Ophthalmol Case Rep 2023;3:545-6

How to cite this URL:
Pillai MR, Chaudhary S, Gandhi NP, Varshney T, Kannan NB. Megalocornea and microspherophakia in homocysteinemia: A rare association. Indian J Ophthalmol Case Rep [serial online] 2023 [cited 2023 Jun 2];3:545-6. Available from: https://www.ijoreports.in/text.asp?2023/3/2/545/374965

A 2-year-old female child presented to us with complaints of right eye (RE) pain, redness, and watering for 4 days. She was born to parents who had a first-degree consanguineous marriage. Remaining history was insignificant.

On examination, the child was following light with both eyes. Slit-lamp examination revealed circumcorneal congestion, mid-dilated pupil, and microspherophakia with dislocation of clear lens into the anterior chamber in RE [Figure 1]a, [Figure 1]b and inferonasal subluxation of lens in the left eye (LE). Evaluation under anesthesia was done [Figure 1]c. Horizontal corneal diameter was found to be 12.5 mm in both eyes (BE), suggestive of megalocornea. Intraocular pressure (IOP) measurement was 14.5 mmHg in RE and 12.5 mmHg in LE. Axial length was normal in BE. Systemic examination revealed an umbilical hernia of 20 × 15 cm [Figure 1]d.
Figure 1: (a and b) Anterior segment photograph of RE showing microspherophakia with dislocation into the anterior chamber. (c) Smartphone photograph of RE taken during evaluation under anesthesia, documenting megalocornea and microspherophakia with dislocation into the anterior chamber. (d) Umbilical hernia with a defect size of 20 × 15 cm. RE = right eye

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Blood profile revealed an elevated serum homocysteine level of 17.2 μmol/L (normal range: 4.7–12.6 μmol/L). Patient was started on topical dorzolamide in RE, considering impending pupillary block glaucoma, and underwent sequential pars plana lensectomy in BE. RE developed 360° choroidal effusion on postoperative day 2 [Figure 2], which was managed conservatively and resolved.
Figure 2: B-scan ultrasound image of the RE showing choroidal effusion (arrowheads). RE = right eye

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  Discussion Top

Homocysteinemia is a rare metabolic disorder caused by cystathionine-β-synthase deficiency. The major findings include developmental delay, intellectual disability, skeletal abnormalities, and thromboembolic phenomenon.[1],[2] Associated megalocornea and microspherophakia have been rarely reported.[3] Ectopia lentis occurs secondary to homocysteinylation of fibrillin-1, resulting in weaking of zonules.[4] Other features include optic atrophy, anterior staphylomas, and corneal opacities. Homocysteinemia also interferes with collagen cross linking, explaining the weak anterior abdominal wall.[5] Among the phenotypic variants, our patient was probably B6-responsive type, considering mild systemic involvement without intellectual disability.

Apart from homocysteinemia, ectopia lentis is also seen in Marfan's syndrome and Weill–Marchesani syndrome, which have systemic associations. Hence, a comprehensive systemic examination becomes imperative in a patient with ectopia lentis.

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.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Spaeth GL, Barber GW. Homocystinuria-Its ocular manifestations. J Pediatr Ophthalmol Strabismus 1966;3:42-8.  Back to cited text no. 1
Mulvihill A, Yap S, O'Keefe M, Howard PM, Naughten ER. Ocular findings among patients with late-diagnosed or poorly controlled homocystinuria compared with a screened, well-controlled population. J AAPOS 2001;5:311-5.  Back to cited text no. 2
Lieberman TW, Podos SM, Hartstein J. Acute glaucoma, ectopia lentis and homocystinuria. Am J Ophthalmol 1966;61:252-5.  Back to cited text no. 3
Hubmacher D, Cirulis JT, Miao M, Keeley FW, Reinhardt DP. Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin. J Biol Chem 2010;285:1188-98.  Back to cited text no. 4
Kang AH, Trelstad RL. A collagen defect in homocystinuria. J Clin Invest 1973;52:2571-8.  Back to cited text no. 5


  [Figure 1], [Figure 2]


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