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1.
Eur J Ophthalmol ; 32(3): 1619-1626, 2022 May.
Article in English | MEDLINE | ID: mdl-34120496

ABSTRACT

PURPOSE: To assess the efficacy and safety of dexamethasone 0.7 mg implants (DEX-I) in patients with diabetic macular edema (DME) either naïve to therapy or refractory to anti-VEGF treatment, in a single-center, real-world setting. METHODS: Patients diagnosed with DME and treated with DEX-I were retrospectively enrolled in the study and split in two groups: naïve (Group 1, n = 64) and refractory (Group 2, n = 64) to treatment. Patients were evaluated at baseline, at 1 month, and every 3 months after each DEX-I implant. Main outcome measures were change in best-corrected visual acuity (BCVA) and central macular thickness (CMT) from baseline to follow-up visits. RESULTS: Significant improvements in BCVA were observed in treatment-naïve patients at 6 months following the first and second DEX-I injection (p = 0.0023 and p = 0.0063, respectively), with significant reductions in mean CMT at 6 months after all DEX implants. In treatment-refractory patients, mean CMT was significantly reduced from baseline to 6 months (p < 0.05) after all DEX-I injections, although no changes were observed in BCVA. CONCLUSIONS: DEX-I improved visual acuity and macular edema mostly in treatment-naïve patients, suggesting DEX-I may be a viable first-line treatment option in DME.


Subject(s)
Diabetes Mellitus , Diabetic Retinopathy , Macular Edema , Dexamethasone , Diabetic Retinopathy/diagnosis , Diabetic Retinopathy/drug therapy , Drug Implants/therapeutic use , Glucocorticoids , Humans , Intravitreal Injections , Macular Edema/diagnosis , Macular Edema/drug therapy , Macular Edema/etiology , Retrospective Studies , Treatment Outcome
2.
Neuroradiol J ; 29(3): 231-5, 2016 Jun.
Article in English | MEDLINE | ID: mdl-27006106

ABSTRACT

Burkitt's lymphoma (BL) is an aggressive B-cell non-Hodgkin lymphoma that is found predominantly in children, with the highest incidence occurring in Africa. The sporadic form occurs in non-endemic areas and typically involves the ileo-caecum and the bowel, whereas orbital and paranasal sinus involvement is rare. Here, we present an unusual case of sporadic BL in a Caucasian male child with rapidly progressive painful proptosis of the right eye. Magnetic resonance imaging showed an oval-shaped, extraconal mass in the supero-lateral part of the right orbit that deformed and dislocated the eyeball antero-inferiorly. The patient underwent anterior orbitotomy, and a biopsy of the excised tissue revealed a starry-sky appearance characteristic of BL. Postoperative aggressive chemotherapy was initiated with a good response after one week.


Subject(s)
Burkitt Lymphoma/pathology , Exophthalmos/pathology , Orbital Neoplasms/pathology , Burkitt Lymphoma/complications , Burkitt Lymphoma/diagnostic imaging , Child, Preschool , Exophthalmos/diagnostic imaging , Exophthalmos/etiology , Humans , Magnetic Resonance Imaging , Male , Orbital Neoplasms/complications , Orbital Neoplasms/diagnostic imaging
3.
Retina ; 35(10): 1979-84, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26079476

ABSTRACT

PURPOSE: To assess the incidence, characteristics, best-corrected visual acuity (BCVA), central macular thickness (CMT), and retinal sensitivity correlations in patients with and without outer retinal tubulation (ORT) affected by subfoveal choroidal neovascularization due to neovascular age-related macular degeneration. METHODS: Prospective case series including 78 eyes of 78 consecutive patients with subfoveal choroidal neovascularization due to neovascular age-related macular degeneration. Baseline and follow-up visits included BCVA, intraocular pressure, ophthalmoscopic examination, CMT as measured by spectral domain optical coherence tomography, and retinal sensitivity tested with fundus-related perimetry (MP-1). Fluorescent angiography was performed at baseline. RESULTS: At the end of the follow-up period, the mean BCVA and CMT of patients with ORT were statistically different from those without ORT (BCVA: 0.61 ± 0.13 vs. 0.37 ± 1.59, P < 0.0001; CMT: 290 ± 26.7 vs. 215.2 ± 33.5 µm; P < 0.0001). Patients with ORT showed a decreased mean retinal sensitivity compared with patients without ORT (6.31 ± 2.5 dB vs. 9.89 ± 5.43 dB; P < 0.0001). CONCLUSION: The results of this study investigating the BCVA, CMT, and retinal sensitivity detected by MP-1 between patients with and without ORT in neovascular age-related macular degeneration suggest that these parameters are statistically different in patients with ORT; this may be due to the pathogenesis of ORT formation, secondary to retinal pigment epithelial tears or photoreceptor damage. MP-1 microperimeter is a noninvasive instrument that provides useful information to better characterize the functional aspect of ORT in patients with age-related macular degeneration.


Subject(s)
Retina/pathology , Wet Macular Degeneration/diagnosis , Aged , Angiogenesis Inhibitors/therapeutic use , Female , Fluorescein Angiography , Humans , Incidence , Intravitreal Injections , Prospective Studies , Ranibizumab/therapeutic use , Tomography, Optical Coherence , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Visual Acuity/physiology , Wet Macular Degeneration/drug therapy , Wet Macular Degeneration/physiopathology
4.
Cornea ; 30(12): 1328-35, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21926910

ABSTRACT

PURPOSE: To evaluate corneal graft survival over a 5-year period and to investigate whether factors related to the donor, eye bank practices, the recipient, surgery, and postoperative course influenced the outcome. METHODS: Nine hundred ninety-eight patients were randomly selected and monitored in the subsequent 3 years from a cohort of 4500 recipients who underwent penetrating keratoplasty between 2001 and 2004. Cox univariate regression analysis was used to select variables to be included in a multivariate Cox proportional hazards model with a backward selection procedure to identify potential risk factors for graft failure. Graft survival curves were obtained from Kaplan-Meier estimates. RESULTS: Ectasia/thinning was the most common indication (49.1%), followed by regraft (16.1%) and pseudophakic corneal edema (PCE) (9.4%). The overall rate of graft failure was 10.7% with 6 cases of primary graft failure. Adverse reactions and complications (other than graft failure) were reported in 2.7% of patients in the first postoperative week and in 22.8% during the full follow-up period. The probability of 5-year survival was 83.0%, best in eyes with ectasia/thinning (96.0%) and less favorable in PCE (67.0%) and regraft (64.0%). Multivariate analyses showed the following variables to be linked to an increased risk of graft failure: regraft for any reason, all clinical indication except PCE, history of ocular inflammation/infection, pseudophakic/aphakic eye, vitrectomy, graft Descemet folds, adverse reactions/complications, and surgeons' low caseload. CONCLUSIONS: Penetrating keratoplasty shows an overall positive prognosis in the long-term. However, the probability of graft survival is largely dependent on the preoperative clinical condition and the lack of complications during follow-up.


Subject(s)
Graft Rejection/etiology , Graft Survival , Keratoplasty, Penetrating , Adolescent , Adult , Age Distribution , Aged , Aged, 80 and over , Child , Epidemiologic Methods , Female , Humans , Male , Middle Aged , Prognosis , Risk Factors , Young Adult
5.
J Neurol ; 257(12): 1999-2003, 2010 Dec.
Article in English | MEDLINE | ID: mdl-20632027

ABSTRACT

Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural hearing loss, and memory dysfunction, suggestive of Susac's syndrome. The patient carried the heteroplasmic mt. 11778G>A mutation on the T2e mtDNA haplogroup. It remains unclear if chronic alcohol abuse combined with the mitochondrial genetic background prompted an aged-related neurodegeneration or deferred the onset of the LHON disease.


Subject(s)
Optic Atrophy, Hereditary, Leber/diagnosis , Susac Syndrome/diagnosis , Diagnosis, Differential , Humans , Male , Middle Aged , Optic Atrophy, Hereditary, Leber/genetics , Optic Atrophy, Hereditary, Leber/pathology , Susac Syndrome/genetics , Susac Syndrome/pathology
6.
Eur J Ophthalmol ; 20(1): 194-200, 2010.
Article in English | MEDLINE | ID: mdl-19882527

ABSTRACT

PURPOSE: To evaluate the outcome of local resection versus combined local resection and plaque radiotherapy in the treatment of choroidal melanoma. METHODS: We retrospectively analyzed the records of 60 patients (60 eyes) managed by local resection (group 1, 30 patients, external or internal local resection) or combined local resection and plaque radiotherapy (group 2, 30 patients, both Ruthenium-106 or Cobalt-60), among the 364 melanomas treated at our Department of Ophthalmology, between January 1980 and December 2006. Main outcomes measures were postsurgical complications, visual acuity, local recurrence, reasons for enucleation, and development of metastasis. RESULTS: The 2 groups of patients were considered sufficiently homogeneous as regards location, cell type, and age. Mean follow-up was 7 years. The median largest basal tumor diameter was 9.8 mm and 10.1, and the median tumor thickness was 7.9 mm and 8, respectively, in groups 1 and 2. No statistically significant differences resulted between group 1 and group 2 as regards postsurgical complications (vitreous hemorrhage, retinal detachment, maculopathy, cataract, and optic neuropathy) (p>0.05), visual acuity (p>0.05), local recurrence (p>0.05), reasons for enucleation (p>0.05), or development of metastasis (p>0.05). CONCLUSIONS: No adjunctive benefits from the combined local resection and plaque radiotherapy can be ruled out from our study.


Subject(s)
Brachytherapy , Choroid Neoplasms/therapy , Melanoma/therapy , Ophthalmologic Surgical Procedures , Choroid Neoplasms/pathology , Choroid Neoplasms/radiotherapy , Choroid Neoplasms/surgery , Combined Modality Therapy , Fluorescein Angiography , Humans , Magnetic Resonance Imaging , Melanoma/pathology , Melanoma/radiotherapy , Melanoma/surgery , Middle Aged , Retrospective Studies , Treatment Outcome , Visual Acuity
7.
Eur J Ophthalmol ; 19(5): 890-3, 2009.
Article in English | MEDLINE | ID: mdl-19787618

ABSTRACT

PURPOSE: To describe a patient with nonexudative age-related macular degeneration (AMD) who underwent intravitreal pegaptanib sodium injection for drusenoid pigment epithelium detachment (PED). METHODS: A 66-year-old woman, who underwent intravitreal pegaptanib sodium injection in her right eye (RE) for chronic serous drusenoid PED, was submitted to a complete ophthalmologic examination, including fundus biomicroscopy, fluorescein angiography (FA), indocyanine green angiography (ICGA), and optical coherence tomography (OCT-3, Humphrey-Zeiss, San Leandro, CA), 3 days and 1 month after the treatment. RESULTS: Three days after the intravitreal pegaptanib sodium injection, best-corrected visual acuity (BCVA) was 20/32 in the RE. One month later, the patient's BCVA dropped to 20/200 in the RE. Interestingly, fundus biomicroscopy, FA, OCT, and ICGA revealed the development of foveal geographic atrophy. Fundus-related perimetry (MP-1 Micro Perimeter, Nidek Technologies, Padova, Italy) revealed an eccentric and unstable fixation within 2 degrees with central absolute scotoma and pericentral diffuse reduction of sensitivity. CONCLUSIONS: The rapid development of foveal geographic atrophy in our patient may be related to the antivascular endothelial growth factor treatment, in part because of the reduced neuroprotective effect, and in part because of the adjunctive decreased blood flow in an already imbalanced foveal choroidal circulation due to AMD complicated by chronic serous drusenoid PED.


Subject(s)
Aptamers, Nucleotide/adverse effects , Retinal Detachment/drug therapy , Retinal Diseases/chemically induced , Retinal Drusen/drug therapy , Retinal Pigment Epithelium/drug effects , Aged , Atrophy , Coloring Agents , Female , Fluorescein Angiography , Humans , Indocyanine Green , Injections , Macular Degeneration/drug therapy , Retinal Diseases/diagnosis , Retinal Pigment Epithelium/pathology , Tomography, Optical Coherence , Visual Acuity , Visual Field Tests , Vitreous Body
8.
Retina ; 29(9): 1274-81, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19696699

ABSTRACT

PURPOSE: To examine the short-term fluctuation of diabetic macular edema (DME) after one intravitreal ranibizumab injection. METHODS: Twenty consecutive patients with DME received an intravitreal injection of ranibizumab (0.05 mL/0.5 mg). Assessment of best-corrected visual acuity (BCVA), fundus biomicroscopy, MP-1 fundus-related perimetry using follow-up strategy (pattern macula 8 degrees 0 dB with threshold strategy 4-2), and optical coherence tomography central macular thickness (CMT),were performed at baseline and 1 hour, 24 hours, 14 days, 28 days, and 56 days after intravitreal injection of ranibizumab. RESULTS: A total of 18 eyes of 18 patients (9 male, 9 female; mean age, 62.28 +/- 8.08 years; range, 48-75 years) who completed the 56-day follow-up were included for analysis. Intravitreal ranibizumab was found to produce significant improvements in mean BCVA and MP-1 sensitivity, as well as reduction in mean CMT, after one injection. This anatomical and functional improvement, which compared with baseline was evident as soon as the 1-hour follow-up (mean CMT reduction: t= 1.7899, P = 0.045; mean MP-1 sensitivity improvement: t = -1.9891, P 0.0315), and lasted until the 56-day follow-up (mean BCVA improvement: t= 2.26, P < 0.05; mean CMT reduction: t = 3.61, P < 0.05; MP-1 sensitivity improvement: t = -5.21, P < 0.05). CONCLUSION: These short-term observations give insights into the physiopathology of DME treated with a intravitreal ranibizumab injection.


Subject(s)
Angiogenesis Inhibitors/administration & dosage , Antibodies, Monoclonal/administration & dosage , Diabetic Retinopathy/drug therapy , Macular Edema/drug therapy , Aged , Antibodies, Monoclonal, Humanized , Diabetic Retinopathy/physiopathology , Female , Follow-Up Studies , Humans , Injections , Macular Edema/physiopathology , Male , Middle Aged , Prospective Studies , Ranibizumab , Tomography, Optical Coherence , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Visual Acuity/physiology , Visual Field Tests , Visual Fields/physiology , Vitreous Body
10.
Eur J Ophthalmol ; 19(3): 331-6, 2009.
Article in English | MEDLINE | ID: mdl-19396774

ABSTRACT

PURPOSE: To investigate the clinical efficacy of a Ginkgo biloba extract associated with hyaluronic acid ophthalmic solution (GB-HA, Trium, SOOFT, Italy), compared to hyaluronic acid ophthalmic solution (HA) alone, in seasonal allergic conjunctivitis (AC). METHODS: A total of 60 patients with symptomatic AC were enrolled and randomly assigned to the two treatment regimens. After a washout period of 15 days, the treatment with GB-HA eyedrops or HA ophthalmic solution alone was initiated and continued for 1 month. The clinical symptoms such as conjunctival hyperemia, conjunctival discharge, and chemosis, and subjective signs as itching, photophobia, stinging, and lacrimation, were evaluated before and after the treatment. A 0-4 score was used by an independent clinical observer to quantify the above parameters. RESULTS: Patients treated with GB-HA, compared to patients treated with HA alone, showed a significant decrease in the appearance of conjunctival hyperemia, conjunctival discharge, and chemosis. Furthermore, all patients treated with GB-HA showed a significant improvement of subjective symptoms, compared to HA patients. Compared to their baseline values, patients treated with HA alone showed a small but not significant improvement in only some of the clinical and subjective symptoms. CONCLUSIONS: The results suggest that Ginkgo biloba extract may exert therapeutic activity in the treatment of seasonal allergic conjunctivitis. Hyaluronic acid did not exert any valuable effect on this pathology.


Subject(s)
Conjunctivitis, Allergic/drug therapy , Hyaluronic Acid/therapeutic use , Ophthalmic Solutions/therapeutic use , Plant Extracts/therapeutic use , Adolescent , Conjunctivitis, Allergic/diagnosis , Conjunctivitis, Allergic/physiopathology , Drug Therapy, Combination , Female , Ginkgo biloba , Humans , Hyaluronic Acid/administration & dosage , Hyaluronic Acid/adverse effects , Male , Ophthalmic Solutions/administration & dosage , Ophthalmic Solutions/adverse effects , Plant Extracts/administration & dosage , Plant Extracts/adverse effects , Treatment Outcome
11.
Eur J Ophthalmol ; 19(3): 429-34, 2009.
Article in English | MEDLINE | ID: mdl-19396790

ABSTRACT

PURPOSE: To compare the efficacy of selective laser trabeculoplasty (SLT) to argon laser trabeculoplasty (ALT) as treatment and retreatment to lower intraocular pressure (IOP) in patients with uncontrolled open-angle glaucoma (OAG) on maximally tolerated medication therapy with a follow-up of 12 months. METHODS: A total of 120 eyes of 120 patients with uncontrolled OAG were enrolled in the study. Group A included patients with IOP >22 mmHg on maximal medical therapy. A total of 43 eyes underwent SLT treatment and 41 eyes underwent ALT treatment. At the end of the follow-up IOP was <18 mmHg. Group B included patients with IOP >20 mmHg at 3 months follow-up after SLT or ALT treatment. These patients were retreated randomly, 18 with SLT and 18 with ALT. RESULTS: In Group A at the end of the follow-up there was no statistically significant difference in IOP lowering between SLT (6.01 mmHg) and ALT (6.12) (p=0.794). In Group B at the end of the follow-up patients undergoing SLT presented IOP lowering statistically significant to ALT treatment (6.24 mmHg and 4.65 mmHg, respectively, p<0.01). DISCUSSION: SLT is effective as treatment for patients with OAG and appears to be equivalent to ALT in IOP lowering at 12 months only in patients without a prior treatment. In case of retreatment SLT appears to be better than ALT in IOP lowering.


Subject(s)
Glaucoma, Open-Angle/surgery , Laser Therapy/methods , Lasers, Gas/therapeutic use , Lasers, Solid-State/therapeutic use , Trabecular Meshwork/surgery , Trabeculectomy/methods , Chronic Disease , Female , Follow-Up Studies , Glaucoma, Open-Angle/physiopathology , Humans , Intraocular Pressure/physiology , Male , Middle Aged , Prospective Studies , Tonometry, Ocular , Treatment Outcome , Visual Acuity/physiology
12.
Invest Ophthalmol Vis Sci ; 50(3): 1081-6, 2009 Mar.
Article in English | MEDLINE | ID: mdl-18978346

ABSTRACT

PURPOSE: Keratoconus (KC) is the most common indication for corneal transplantation in the Western world, with etiologic mechanisms still poorly understood. The disease prevalence in the general population is approximately 1:2000, and familial aggregation, together with increased familial risk, suggests important genetic influences on its pathogenesis. To date, several loci for familial keratoconus have been described, without the identification of any responsible gene in the respective mapped intervals. The aim of this study was to identify causative/susceptibility genes for keratoconus. METHODS: A total of 133 individuals (77 affected and 59 unaffected) of 25 families from southern Italy were genotyped using microsatellite markers and included in a genome-wide scan. Nonparametric and parametric analysis using an affected-only strategy were calculated by using genetic algorithm software. RESULTS: The chromosomal regions 5q32-q33, 5q21.2, 14q11.2, 15q2.32 exhibited the strongest evidence of linkage by nonparametric analysis (NPL = 3.22, 2.73, 2.62, and 2.32, respectively). The regions 5q32-q33 and 14q11.2 were also supported by multipoint parametric analysis, for which heterogeneity LOD (HLOD) scores of 2.45 (alpha = 0.54) and 2.09 (alpha = 0.46), respectively, were obtained under an affected-only dominant model. CONCLUSIONS: This study represents the first KC linkage replication study on the chromosomal region 5q21.2 and reports evidence of suggestive linkage in several regions for which suggestive or significant linkage has been previously detected in different populations.


Subject(s)
Chromosomes, Human, Pair 5/genetics , Genetic Linkage , Genetic Predisposition to Disease , Keratoconus/genetics , Algorithms , Chromosome Mapping , Chromosomes, Human, Pair 14/genetics , Genotype , Humans , Lod Score , Microsatellite Repeats , Pedigree
14.
Retina ; 29(1): 33-7, 2009 Jan.
Article in English | MEDLINE | ID: mdl-18854783

ABSTRACT

PURPOSE: : To determine the feasibility, safety, and clinical effect of intravitreal bevacizumab (Avastin) in patients with refractory cystoid macular edema after uncomplicated cataract surgery. METHODS: : Ten eyes of 10 patients affected by pseudophakic cystoid macular edema refractory to medical treatment treated with at least one intravitreal injection of 1.25 mg of bevacizumab were enrolled in the study. Follow-up visits included Early Treatment Diabetic Retinopathy Study visual acuity testing, optical coherence tomography imaging, and ophthalmoscopic examination. RESULTS: : The follow-up was 6 months. All eyes had improved best corrected visual acuity, and no eye had worse visual acuity (>/=2 Early Treatment Diabetic Retinopathy Study lines). The mean baseline best corrected visual acuity was 20/80 and the mean final best corrected visual acuity 20/32, the difference was statistically significant (P < 0.0001). The mean central macular thickness at baseline (546.8 mm; range, 359-720 mm) decreased significantly (228.7 mm; range, 190-280 mm) by the end of follow-up (P < 0.0001). No ocular or systemic adverse events were observed. CONCLUSIONS: : Short-term results suggest that intravitreal bevacizumab is safe and well tolerated in patients with pseudophakic cystoid macular edema. Treated eyes had a significant improvement in best corrected visual acuity and decrease in macular thickness by optical coherence tomography.


Subject(s)
Angiogenesis Inhibitors/therapeutic use , Antibodies, Monoclonal/therapeutic use , Macular Edema/drug therapy , Postoperative Complications , Pseudophakia/drug therapy , Aged , Angiogenesis Inhibitors/adverse effects , Antibodies, Monoclonal/adverse effects , Antibodies, Monoclonal, Humanized , Bevacizumab , Cataract Extraction , Feasibility Studies , Female , Fluorescein Angiography , Follow-Up Studies , Humans , Injections , Lens Implantation, Intraocular , Macular Edema/etiology , Male , Middle Aged , Pseudophakia/etiology , Retrospective Studies , Tomography, Optical Coherence , Treatment Outcome , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Visual Acuity , Vitreous Body
15.
Int Ophthalmol ; 29(4): 271-4, 2009 Aug.
Article in English | MEDLINE | ID: mdl-18401554

ABSTRACT

PURPOSE: To describe a patient with isolated foveal hypoplasia. METHODS: A 55-year-old man with the clinical suspicion of foveal hypoplasia was given a complete ophthalmological examination, including optical coherence tomography (OCT), fluorescein angiography (FA) and fundus-related perimetry (FRP). Mutation screening for oculocutaneous albinism and aniridia was also performed, but the results were negative for both. RESULTS: Following a complete ophthalmological examination and genetic studies, we were able to confirm the clinical suspicion of isolated foveal hypoplasia in this otherwise healthy patient. CONCLUSIONS: With this report we want to highlight the roles of OCT, FA and FRP in the diagnosis of such a singular condition as isolated foveal hypoplasia.


Subject(s)
Eye Abnormalities/diagnosis , Fovea Centralis/abnormalities , Albinism, Oculocutaneous/diagnosis , Fluorescein Angiography , Fundus Oculi , Genetic Testing , Humans , Male , Middle Aged , Tomography, Optical Coherence , Visual Field Tests
16.
Mol Vis ; 15: 2960-72, 2009 Dec 31.
Article in English | MEDLINE | ID: mdl-20057903

ABSTRACT

PURPOSE: To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene. METHODS: Best VMD patients with BEST1 mutations were evaluated prospectively regarding age, age of onset, best-corrected visual acuity (BCVA), fundus autofluorescence, fluorescein angiography, optical coherence tomography, and electro-oculography. Mutations in BEST1 were established by direct sequencing. RESULTS: Forty-six eyes of 23 patients (10 male, 13 female) were included in the study. We identified nine different BEST1 mutations (3/9 novel), in ten unrelated families. The age of patients ranged between 3 and 75 years; age of onset varied between 2 and 67 years. BCVA ranged between 20/20 and 20/200. On the basis of fundus biomicroscopy with direct illumination, using one widely accepted classification, the macular lesions could be counted as follows: 1. no lesion (normal fovea): eight eyes, five patients carrying a mutation on the BEST1 gene; 2. previtelliform lesions: six eyes, three affected patients; 3. vitelliform lesions: four eyes, two affected patients; 4. pseudohypopyon: three eyes, three affected patients; 5. vitelliruptive lesions (scrambled egg aspect with dispersion of the vitelliform material without sign of atrophy or fibrosis): ten eyes, six affected patients; 6. atrophic lesions (atrophy with or without residual dispersed material): seven eyes, five patients; 7. fibrotic lesions: eight eyes, five patients. Two patients presented unilateral Best VMD. Both eyes of two patients presented multifocal Best VMD features on fundus examination. Six eyes of four patients have been treated for choroidal neovascularization by thermic photocoagulation [one eye], photodynamic therapy [three eyes], and intravitreal ranibizumab injection [two eyes]. Comparison of interfamilial and intrafamilial clinical data between patients did not reveal differences in age, BCVA, and stage of the disease as evaluated by fundus autofluorescence, fluorescein angiography, and optical coherence tomography (p>0.05). Mean BCVA impairment showed a statistically significant correlation to a more advanced stage of the disease (p<0.001). CONCLUSIONS: BEST1 mutations were not correlated with the severity of the functional and clinical data in the Best VMD patients examined.


Subject(s)
Chloride Channels/genetics , Eye Proteins/genetics , Macular Degeneration/genetics , Macular Degeneration/physiopathology , Mutation/genetics , Adolescent , Adult , Aged , Alleles , Amino Acid Sequence , Base Sequence , Bestrophins , Child , Child, Preschool , Chloride Channels/chemistry , Chromosome Segregation/genetics , DNA Mutational Analysis , Eye Proteins/chemistry , Female , Fundus Oculi , Humans , Macular Degeneration/pathology , Male , Molecular Sequence Data , Pedigree , Sequence Alignment , Tomography, Optical Coherence , Young Adult
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