|Year : 2023 | Volume
| Issue : 2 | Page : 551-552
Sutural cataract in neurofibromatosis type 1
Athul S Puthalath1, Prashant K Verma2, Sreeram Jayaraj1
1 Department of Ophthalmology, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India
2 Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India
|Date of Submission||23-Aug-2022|
|Date of Acceptance||11-Jan-2023|
|Date of Web Publication||28-Apr-2023|
Athul S Puthalath
Ex.Senior Resident, Department of Ophthalmology, All India Institute of Medical Sciences (AIIMS), Rishikesh .- 249 203, Uttarakhand
Source of Support: None, Conflict of Interest: None
Keywords: Cataract, genetics, neurofibromatosis
|How to cite this article:|
Puthalath AS, Verma PK, Jayaraj S. Sutural cataract in neurofibromatosis type 1. Indian J Ophthalmol Case Rep 2023;3:551-2
An 8-year-old schoolgirl with multiple swellings all over the body presented to the ophthalmology clinic for routine evaluation. On detailed ocular evaluation, her best-corrected visual acuity (BCVA) was 20/20 in both eyes (BE) and the anterior segment evaluation of BE revealed normal size and normal reaction of pupils with multiple Lisch nodules on the iris along with sutural cataract in BE [Figure 1]a, [Figure 1]b, [Figure 1]c, [Figure 1]d, [Figure 1]e, [Figure 1]f, [Figure 1]g. Her posterior segment was within normal limits [Figure 1]h and [Figure 1]i. On general examination, she was found to have multiple neurofibromas involving the face, back and hands, skin freckling, and about 10 café-au-lait macules with each measuring at least more than 15 mm in their greatest diameters [Figure 2]. She had normal skeletal and neurological examination findings. A clinical diagnosis of neurofibromatosis type 1 was made and is being kept on regular follow-up.
|Figure 1: Slit-lamp photography of the right eye (a) and left eye (b) in the dilated state under diffuse illumination showing the sutural cataract and rest of the clear lens. Under retroillumination, sutural cataracts can be seen as shadows in the right eye (c) and left eye (d). The optical section of the left eye (e) reveals the sutural cataract prominently. Lisch nodules (yellow arrows) can be seen on the iris of the right eye (f) and left eye (g). Fundus photographs of the right eye (h) and left eye (i) revealed a normal posterior segment|
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|Figure 2: Diffuse gross photography of the patient showing neurofibroma on the face (a), café au lait macule on the arm (b), palmar freckling (c), and neurofibroma on the foot (d). Inguinal freckling with café au lait macules (e) was also seen in the patient. Back of the patient revealed numerous freckles, café au lait macule, and neurofibromas (f)<|
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| Discussion|| |
Neurofibromatosis type 1 is a dominantly inherited genetic disorder that results from a germline mutation in the NF1 tumor-suppressor gene. NF1 is located on chromosome 17q11.2 and encodes a 220 kDa cytoplasmic protein called neurofibromin. At present, the diagnosis of neurofibromatosis type 1 is most commonly made using established clinical criteria, reserving NF1 genetic testing for unusual presentations or reproductive decision-making. Sutural cataracts are uncommon lenticular opacities occurring along the Y sutures of the crystalline lens at the location of closure of the fetal optic nucleus. They have been mapped to various genes including CRYBA3/A1, which encodes for both the β-A3- and β-A1-crystallins and is located at 17q11.2-q12., This gene is located centromeric to NF 1 and since in our patient both features of NF1 and sutural cataract is present, there might be a contiguous gene deletion. As per our knowledge, there is no such case reported with simultaneous sutural cataract and neurofibromatosis type 1 in a 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.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]