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Alzahrani M, Rehman MA, Bahttab S. Vision Loss Case of Bardet Biedl Syndrome. Int J Ophthalmol Eye Res. 2018;6(3):374-376.
International Journal of Ophthalmology & Eye Science (IJOES)
ISSN 2332-290X
Vision Loss Case of Bardet Biedl Syndrome
Case Report
Alzahrani M
1*
, Rehman MA
2
, Bahttab S
3
1
Resident, Department of Ophthalmology, East Jeddah Hospital, Jeddah, Saudi Arabia.
2
Senior Specialist, Department of Ophthalmology, East Jeddah Hospital, Jeddah, Saudi Arabia.
3
Ophthalmology consultant, Department of Ophthalmology, East Jeddah Hospital, Jeddah, Saudi Arabia.
Introduction
Bardet Biedl Syndrome is a rare hereditary autosomal recessive
disorder with multisystem involvement. The prevalence 1:140,000
and 1:160,000 [1, 2]. While the number prevalence increased with
consanguinity marriage by 1:65,000 [3]. The complete BBS rep-
resented by obesity, retinal rods and cons degeneration, mental
retardation, postaxial polydactyly, stunted growth, renal involve-
ment and hypogonadism [4]. The review would give the funda-
mental familiarity with the syndrome manifestation that will have
an effect in early control of disease and directing advantages to
the patients and their families. Hence, we conducted this study
along with clinical profle of Bardet Biedl Syndrome patient.
Case Report
A women of forty-three years, known case of retinitis pigmentosa
and presented to East Jeddah Hospital, Ophthalmology depart-
ment requesting a medical report, by history, she was not able to
see at night for years then both day and night lost with noticed
horizontal nystagmus. Patient has past history learning diffculties.
The rest of systemic review is unremarkable. By examination: pa-
tient underwent for dysmorphology examination, anthropometric
measurements, ophthalmology evaluation such microscopic ex-
amination, fundus camera and Optical Coherence Tomography
(OCT). Patient was conscious, mild cognitive impairment and no
cerebellar signs, including coordination and gait instability. Exam-
inations of power, tone grades and Sensation of all limbs were
intact.
Her BMI is 30.8 obese, other fndings were polydactyly of lower
limbs, Figure 1 upper limb polydactyly has had excised at child-
hood. The rest of examination was irrelevant. Laboratory and ra-
diology have obtained, include of complete blood count, random
blood sugar, HgA1c, liver, renal function tests, and abdominal/
pelvic ultrasonography, Electrocardiography (ECG) that were
found to be normal.
Ocular History
Visual Acuity: light perception both eyes and horizontal nystag-
mus in both eyes.
Slit Lamp: Lids/Lashes, Conjunctiva and Cornea are Normal.
Goldman Tonometry: OD: 16 mmHg OS: 14 mmHg at 2:30
PM.
Fundus Exam: multiple bony spicules and attenuated vessels
with pale optic disc.
Retinitis pigmentosa on fundoscopy Figure 2 thinned and atrophy
of RBE Figure 3.
Abstract
We would like to report a rare case of Bardet Biedl Syndrome of a women forty-three years, known case of Retinitis pig-
mentosa presented for medical report, after ocular and systemic assessment we found she is obese, moon face, and has extra
toes of both feet and some other fnding which was diagnosed later on Bardet Biedl Syndrome. We documented this rare
case for its important in clinical practice for regular systemic follow up and therefore, subsequently requiring management
accordingly.
Keywords: Bardet Biedl; Retinitis Pigmentosa; Obesity; Polydactyly.
*Corresponding Author:
Mazen Alzahrani,
Resident, Department of Ophthalmology, East Jeddah Hospital, Jeddah, Saudi Arabia.
E-mail: D.mazen@hotmail.com
Received: January 22, 2018
Accepted: February 28, 2018
Published: March 01, 2018
Citation: Alzahrani M, Rehman MA, Bahttab S. Vision Loss Case of Bardet Biedl Syndrome. Int J Ophthalmol Eye Res. 2018;6(3):374-376.
doi: http://dx.doi.org/10.19070/2332-290X-1800075
Copyright: Alzahrani M
©
2018. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution
and reproduction in any medium, provided the original author and source are credited.