|Year : 2022 | Volume
| Issue : 1 | Page : 114-115
Night blindness in a young girl with extra fingers and toes
Bipasha Mukherjee, Sneha Sanjay Bhopatkar
Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Medical Research Foundation, Chennai, Tamil Nadu, India
|Date of Submission||03-Aug-2021|
|Date of Acceptance||10-Nov-2021|
|Date of Web Publication||22-Mar-2022|
Dr. Bipasha Mukherjee
Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Medical Research Foundation, 18 College Road, Chennai - 600 006, Tamil Nadu
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Mukherjee B, Bhopatkar SS. Night blindness in a young girl with extra fingers and toes. TNOA J Ophthalmic Sci Res 2022;60:114-5
| Case|| |
An 18-year-old female presented with progressive diminution of vision in both the eyes since childhood, which worsened at night. Similar complaints were present in her family members.
There was no history of consanguinity. Her father informed that due to a learning disability, her schooling was discontinued after IInd grade. On examination, the patient was short in stature, obese, with extra digits in her hands and feet (polydactyly) [Figure 1]a and [Figure 1]b. Her best-corrected visual acuity was 2/38 and 1/30 in right and left eyes, respectively. Slit-lamp biomicroscopy revealed early lenticular opacities in both the eyes. The rest of the anterior segment was within normal limits including pupils, ocular motility, and intraocular pressure. Fundus examination with indirect ophthalmoscopy revealed waxy pallor of both optic discs, arteriolar attenuation, retinal pigment epithelium (RPE) alterations at the macula, and mottling of the RPE [Figure 1]c and [Figure 1]d.
|Figure 1: a and b Clinical photograph showing extra digits in hands and feet (polydactyly). c and d Fundus photographs showing waxy pallor of the optic discs, arteriolar attenuation, retinal pigment epithelium alterations at the macula and mottling of the RPE. (OD=right; OS=left)|
Click here to view
What would you do next?
- Get an audiometry
- Request electroretinography (ERG)
- Start patient on Vitamin A therapy
Bardet–Biedl syndrome (BBS).
What to do next
b. Request ERG.
| Discussion|| |
BBS is an autosomal recessive ciliopathy characterized by rod-cone dystrophy, polydactyly, truncal obesity, and genitourinary abnormalities. A variable expression is the hallmark of BBS; hence, the diagnosis requires the presence of at least 4 primary features or 3 primaries with 2 secondary features: the primary features are rod-cone dystrophy (90%–100%), postaxial polydactyly (63%–95%), obesity (72%–92%), learning disability, hypogonadism, and renal anomalies.,
The secondary features are speech delay/disorder, strabismus/cataract/astigmatism, brachydactyly/syndactyly, developmental delay, polyuria/polydipsia, ataxia/poor coordination/imbalance, mild spasticity, diabetes mellitus, dental crowding/hypodontia, hepatic fibrosis, and left ventricular hypertrophy/congenital heart disease.
Renal failure due to renal anomalies (53%–82%) contribute to an important cause for morbidity and mortality.
BBS is the second most common syndromic retinal degeneration after Usher syndrome. Early-onset, severe, and progressive retinal dystrophy denoted by severely reduced or extinguished ERG parameters is noted. Genetic testing aids the clinical diagnosis, predicting severity of the disease and carrier risk identification in families. However, high costs, limited access, and availability in developing countries are limiting factors. Currently, there is no treatment for BBS and the management is primarily symptomatic. Due to its multisystem involvement, a multidisciplinary approach consisting of an ophthalmologist, nephrologist, endocrinologist, psychologist, geneticist, and dietician are needed for complete systemic evaluation and management in cases of BBS.
Early diagnosis will help improve the quality of life of the patients and also to control the morbidity and mortality associated with the systemic associations.
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
Conflicts of interest
There are no conflicts of interest.
| References|| |
Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet-Biedl syndrome-now and in the future. Front Pediatr 2018;6:23.
Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. J Med Genet 1999;36:437-46.
Priya S, Nampoothiri S, Sen P, Sripriya S. Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol 2016;64:620-7.
] [Full text]