Phenotype #0000298227
| Individual ID |
00405730 |
| Associated disease |
- |
| Phenotype details |
best corrected visual acuity (BCVA) right, left eye: 20/2000, 20/40; intraocular pressure (IOP) 50 mmHg; remained around 30 after treatment, vision continued to decline, then BCVA right, left eye: counting fingers at 10, 20/600 in the left eye, IOP 25 / 31 mmHg; deep anterior chamber centrally but shallow peripherally without inflammation or posterior synechiae; clear lenses.; fundus: bilateral cup-to-disc ratio of 0.95, horizontal macular pucker with mild vascular tortuosity, and discrete, round, yellow-white deposits of variable sizes scattered throughout the macula and posterior pole; static gonioscopy: circumferential grade IV angle 2�3 clock hours open in each eye on dynamic gonioscopy; ultrasound biomicroscopy (UBM): angle closure in the setting of iris thickening and plateau iris-like configuration with an anteriorly rotated ciliary body and iris root; anterior chamber depth (ACD) right / left eye: 2.64 / 2.77 mm, axial length: 21.88 mm each eye; spectral domain optical coherence tomography (SD-OCT): cystoid macular edema associated with retinoschisis as well as increased reflectivity of the vitreoretinal interface in both eyes with pre-retinal tractional membranes; subfoveal choroid thickness: 401 ?m both eyes. Clear lens extraction with intraocular lens implantation and goniosynechialysis in the left eye with a higher IOP was perfomed; post-operative day 1 � BCVA 20/800, IOP 44 mmHg, unchanged ACD; malignant glaucoma suspected - Nd:YAG laser capsulotomy performed improvement in the patient�s condition; diode laser transscleral cyclophotocoagulation (TCP) � 1 day later IOP in the left eye decreased to 25 mmHg with BCVA improving to 20/667, day 4, IOP 15 mmHg, ACD: 3.014 mm; post-operative week 5, IOP: normal, ACD: 3.427 mm; UBM: increased space between the ciliary body and iris root with a moderate backward rotation of the ciliary body; TCP, the retinoschisis in the left eye resolved completely but with no improvement after lens extraction with intraocular lens implantation and goniosynechialysis. Right eye underwent combined phacoemulsification, intraocular lens implantation, and goniosynechialysis and had similarly improved; fundus fluorescein angiography: scattered early hyperfluorescence in the mid-periphery around the arcades with no significant change in late stages, peripheral retina capillary leakage in late stage images; fundus autofluorescence: perifoveal hypo-autofluorescence in the right worse than left eye and hyper-autofluorescence in the posterior pole corresponding to the areas of hyperfluorescence seen on fundus fluorescein angiography; electrooculography: not possible; flash electroretinogram: decreased rod photoreceptor maximal reaction amplitude, cone � normal. 6m after TCP BCVA 20/250 both eyes, IOP 14-16 mmHg; ACD stable ~ 3.5 mm; no change in fundus, no recurrence of retinoschisis on OCT |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
autosomal recessive bestrophinopathy |
| Age/Examination |
26y (26 years) |
| Age/Diagnosis |
- |
| Age/Onset |
25y |
| Phenotype/Onset |
progressive bilateral blurred vision and ocular pain for the preceding 10 months |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-03-21 14:10:39 +01:00 (CET) |
| Date last edited |
N/A |
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