Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.

PURPOSE: To report the ocular manifestations, multimodal imaging characteristics and genetic testing results of six patients with autosomal recessive bestrophinopathy (ARB). METHODS: This was an observational case series including 12 eyes of 6 patients who were diagnosed with ARB. All patients underwent a complete ophthalmic examination including refraction, slit-lamp biomicroscopy, dilated fundus examination, fundus autofluorescence, optical coherence tomography and electrooculography. BEST1 gene sequencing was also performed for all patients. RESULTS: The mean age was 22.8years and the male-female ratio was 0.50. All ARB patients had a hyperopic refractive error. A spectrum of fundus abnormalities, including multifocal yellowish subretinal deposits in the posterior pole, subfoveal accumulation of vitelliform material and cystoid macular edema, was observed. Fundus autofluorescence imaging demonstrated marked hyperautofluorescence corresponding to the yellowish subretinal deposits. Optical coherence tomography revealed serous retinal detachment, intraretinal cysts, brush border appearance caused by elongation of the outer segments of photoreceptors, and hyperreflective dome-shaped deposits at the level of the retinal pigment epithelium. Fundus fluorescein angiography showed hyperfluorescence with staining of the yellowish subretinal deposits. Electrooculography showed reduced Arden ratio in all patients. In addition, biallelic pathogenic variants in the BEST1 gene were detected in all patients. CONCLUSION: ARB is a rare autosomal recessive inherited retinal disorder with biallelic pathogenic variants in the BEST1 gene and may present with a wide range of ocular abnormalities that may not be easily diagnosed. Multimodal retinal imaging in conjunction with EOG is helpful to establish the correct diagnosis.

Ahmed valve implantation in glaucoma secondary to chronic uveitis.

PURPOSE: To evaluate the efficacy of Ahmed valve (AV) implantation in patients with uveitic glaucoma. METHODS: In total, 18 patients (19 eyes) with glaucoma secondary to chronic uveitis, who underwent AV implantation were retrospectively reviewed. Visual acuity, intraocular pressure (IOP), and glaucoma medications at the most recent examination prior to surgery, were compared with those of last postoperative examination. The surgical success was defined as IOP less than 21 mmHg and greater than 4 mmHg without loss of light perception and visually devastating complications at the last postoperative examination. Decrease in the number of glaucoma medications was also a criterion for surgical success. RESULTS: The mean follow-up period was 26+/-9.7 months. The mean preoperative and postoperative IOPs were 33.3+/-9.7 (range, 20-57) mmHg and 17.3+/-10.8 (range, 6-40) mmHg respectively (P<0.0001). The mean number of antiglaucoma medications was 3.5+/-0.8 (range, 2-5) preoperatively and 1.4+/-1.3 (range, 0-4) postoperatively (P<0.0001). Valve occlusion (five eyes, 26.3%) was the most commonly observed complication. Surgical success was achieved in 13 eyes (68.4%). The cumulative probability of success was 94.4% at 1 year and 60% at 2 years. Five eyes (26.3%) with IOP greater than 21 mmHg and one (5.3%) with corneal decompensation requiring penetrating keratoplasty were considered as failures. CONCLUSIONS: The implantation of AV is an effective surgical procedure for the management of uveitic glaucoma. The inflammatory background might contribute to the occurrence of valve occlusion, which is the most common complication. Prevention of this complication is an essential factor for improving the surgical outcome.

The role of ultrasound biomicroscopy in predicting the result of temporal artery biopsy in temporal arteritis patients: a preliminary study.

PURPOSE: Temporal artery biopsy is considered the gold standard for the diagnosis of temporal arteritis (TA). However, complications following this procedure may occur. The goal of this study is to evaluate if ultrasound biomicroscope (UBM) findings are useful in predicting the result (positive or negative) of temporal artery biopsy in patients with TA. METHODS: Twenty-six consecutive patients with clinical diagnosis of TA seen at the Department of Ophthalmology, Royal Victoria Hospital, Montreal, Canada, were involved in this study. All patients were submitted to UBM before temporal artery biopsy. Eight patients presented histopathologic findings consistent with the diagnosis of TA. Thus, UBM findings of these patients were compared with those from 18 patients with negative biopsy. On UBM we searched for the presence of a hypoechoic effect surrounding the walls of the temporal arteries, the so-called halo sign, as well as an intra-arterial middle reflexive filling, the so-called intra-arterial filling. RESULTS: The halo sign and/or the intra-arterial filling were found in 8 (100%) of 8 patients with biopsy-proven TA. However, 10 (55.5%) of 18 patients with a negative biopsy presented one or both of these two UBM findings. On the other hand, the absence of these two parameters on the UBM of a patient with TA strongly suggests that the temporal artery biopsy will be negative (negative predictive value=100%). CONCLUSIONS: This preliminary work suggests that UBM may play a role in predicting a negative result of the temporal artery biopsy in patients with TA. In the present series approximately 30% of the patients could be spared this surgical procedure and its possible complications.

The role of ultrasound biomicroscopy in predicting the result of temporal artery biopsy in temporal arteritis patients: A preliminary study.

PURPOSE: Temporal artery biopsy is considered the gold standard for the diagnosis of temporal arteritis (TA). However, complications following this procedure may occur. The goal of this study is to evaluate if ultrasound biomicroscope (UBM) findings are useful in predicting the result (positive or negative) of temporal artery biopsy in patients with TA. METHODS: Twenty-six consecutive patients with clinical diagnosis of TA seen at the Department of Ophthalmology, Royal Victoria Hospital, Montreal, Canada, were involved in this study. All patients were submitted to UBM before temporal artery biopsy. Eight patients presented histopathologic findings consistent with the diagnosis of TA. Thus, UBM findings of these patients were compared with those from 18 patients with negative biopsy. On UBM we searched for the presence of a hypoechoic effect surrounding the walls of the temporal arteries, the so-called halo sign, as well as an intra-arterial middle reflexive filling, the so-called intra-arterial filling. RESULTS: The halo sign and/or the intra-arterial filling were found in 8 (100%) of 8 patients with biopsy-proven TA. However, 10 (55.5%) of 18 patients with a negative biopsy presented one or both of these two UBM findings. On the other hand, the absence of these two parameters on the UBM of a patient with TA strongly suggests that the temporal artery biopsy will be negative (negative predictive value=100%). CONCLUSIONS: This preliminary work suggests that UBM may play a role in predicting a negative result of the temporal artery biopsy in patients with TA. In the present series approximately 30% of the patients could be spared this surgical procedure and its possible complications.

Multifocal choroiditis--an unusual finding in Crohn's disease.

PURPOSE: To report a patient with Crohn's disease and acute decreased vision in one eye secondary to multifocal choroiditis and serous retinal detachment. METHODS: A complete ocular examination, including fluorescein angiography, was performed. RESULTS: Fundus biomicroscopy disclosed multifocal, deep, discretely elevated yellowish lesions at the posterior pole of the affected eye. Fluorescein angiographic study of these lesions revealed early hypofluorescence followed by late hyperfluorescence. Subtenonian injection of corticosteroids rapidly induced remission of the choroidal lesions. CONCLUSIONS: Chorioretinal involvement in patients with Crohn's disease may or may not be related to reactivation of this disorder. Therefore, even patients without gastrointestinal symptoms who present with posterior segment inflammation must be informed of this. The chorioretinal inflammatory lesions do seem to respond promptly to periocular injection of corticosteroids.

Accuracy of the clinical diagnosis of chalazion.

PURPOSE: A chalazion, localized lipogranulomatous inflammation of the eyelid, may simulate various eyelid lesions. This study was conducted to determine the accuracy of the clinical diagnosis of chalazion and demonstrate the importance of histopathological confirmation of the diagnosis. METHODS: Histopathological diagnoses of 1060 cases with the clinical diagnosis of chalazion, submitted to the Henry C Witelson Ophthalmic Pathology Laboratory and Registry between September 1993 and December 2001, were retrospectively evaluated. Discrepancies between clinical and histopathological diagnoses were classified. RESULTS: A total of 1033 (97.4%) of the 1060 cases were clinically diagnosed as primary and the remaining 27 (2.6%) as recurrent chalazions. Agreement was noted between clinical and histopathological diagnoses in 992 (93.6%) cases. Of the 68 (6.4%) clinically misdiagnosed cases, 15 (1.4%) were found to be malignant, two (0.2%) premalignant, and 51 (4.8%) benign conditions. Sebaceous cell carcinoma was the most commonly missed malignancy (12 cases, 1.1%) followed by basal cell carcinoma (three cases, 0.3%). Premalignant lesions, which masqueraded as chalazion, were chronic inflammation with cellular atypia and mitotic figures (two cases, 0.2%). Of these 17 cases with premalignant and malignant histopathologies, only six (35.3%) had a clinical diagnosis of recurrent chalazion, whereas the others (64.7%) were primary cases. Of the various benign conditions that were misdiagnosed as chalazion, different types of chronic inflammation (24 cases, 2.2%) were the most frequent. CONCLUSIONS: A number of different benign, premalignant, and malignant conditions may clinically masquerade as a chalazion. Delayed diagnosis and treatment of sebaceous cell carcinoma, which is the most frequently missed malignancy, may be life threatening for the patient. Therefore, all chalazion specimens, primary or recurrent, should be submitted for histopathological examination.

Multifocal choroiditis - an unusual finding in Crohns disease.

PURPOSE: To report a patient with Crohns disease and acute decreased vision in one eye secondary to multifocal choroiditis and serous retinal detachment. METHODS: A complete ocular examination, including fluorescein angiography, was performed. RESULTS: Fundus biomicroscopy disclosed multifocal, deep, discretely elevated yellowish lesions at the posterior pole of the affected eye. Fluorescein angiographic study of these lesions revealed early hypofluorescence followed by late yperfluorescence. Subtenonian injection of corticosteroids rapidly induced remission of the choroidal lesions. CONCLUSIONS: Chorioretinal involvement in patients with Crohns disease may or may not be related to reactivation of this disorder. Therefore, even patients without gastrointestinal symptoms who present with posterior segment inflammation must be informed of this. The chorioretinal inflammatory lesions do seem to respond promptly to periocular injection of corticosteroids. (Eur J Ophthalmol 2004; 14: 345-9).

Posterior segment involvement in ocular Behçet's disease.

PURPOSE: Posterior segment involvement, which can lead to blindness with recurrent inflammatory attacks, has a very important prognostic value in ocular Behçet's disease (BD). This study evaluated the frequency and characteristics of posterior segment involvement and the causes of visual impairment in patients with ocular BD. METHODS: We retrospectively evaluated 257 eyes of the 131 patients who were followed from 1993 to 2001 in the Uveitis and BD division of SSK Ankara Eye Hospital, Turkey. RESULTS: The mean follow-up was 49.2 +/- 27.4 months. Thirty-one of the palents were female (23.6%) and 100 male (76.4%). The mean age was 25.1 +/- 7.9. Fundus changes were observed in 213 (82.9%) eyes and were bilateral in 87%, and vitritis was present in 239 (93%) eyes. The most frequent fundus changes were vascular sheathing in 61 eyes (23.7%), optic atrophy in 46 (17.9%), macular edema in 29 (11.3%), retinal hemorrhage in 23 (9%), macular scar in 21 (8.2%), optic disc paleness in 19 (7.4%), retinal edema in 17 (6.6%), branch retinal vein occlusion in 15 (5.8%). The most common fluorescein angiography findings were diffuse vascular leakage in 98 (38%), hyperfluorescence of the optic disc in 38 (14.8%) and hyperfluorescence of the macula in 29 eyes (11.3%). Visual acuity was <1/10 in 85 (33%) of the eyes. Optic atrophy was the main cause (54.1%) of permanent visual impairment. CONCLUSIONS: Posterior segment involvement is the most serious ocular complication of BD, leading to blindness with recurrent attacks. Following patients closely, performing fluorescein angiography in all patients diagnosed as BD even they have no clinical ocular involvement, and early treatment are very important in the prognosis of the disease.

Central retinal artery occlusion associated with ocular Behçet's disease.

PURPOSE: To report a case of central retinal artery occlusion associated with ocular Behçet's disease (BD) and briefly discuss retinal vasculitis due to BD. CASE REPORT: A 52-year-old man, diagnosed as BD 22 years ago and followed up with ocular involvement for six years presented with sudden loss of vision. The clinical diagnosis was central retinal artery occlusion. RESULTS: No other associated systemic diseases were found and the case was classified as a complication of retinal vasculitis due to BD. CONCLUSIONS: Although the arteries are rarely affected in retinal vasculitis due to BD, it has to be considered in the differential diagnosis of retinal arterial occlusions especially in countries where the disease is prevalent. To our knowledge, this is the first reported case of ocular BD complicated with central retinal artery occlusion.