ABSTRACT
CASES REPORTS: Three myopic components of a same family came for study because presented severely degraded vitreous, equatorial membranes, retinal pigment epithelium hyperplasia, vascular sheathed and sclerosis of peripheral predominance. A genetic study confirmed the diagnosis of Stickler syndrome with a variant in the mutation of the COL2A1 gene. DISCUSSION: Stickler's syndrome should be suspected in families with a characteristic phenotype with vitreous syneresis and alterations in the retina, but there may be genetic variants that do not express the classic phenotype.
Subject(s)
Arthritis/genetics , Connective Tissue Diseases/genetics , Hearing Loss, Sensorineural/genetics , Retinal Detachment/genetics , Adolescent , Adult , Arthritis/diagnostic imaging , Connective Tissue Diseases/diagnostic imaging , Female , Genetic Variation , Hearing Loss, Sensorineural/diagnostic imaging , Humans , Male , Pedigree , Phenotype , Retinal Detachment/diagnostic imagingABSTRACT
CASES REPORTS: The cases are presented of three women of 22, 36 and 55 years old with bilateral myopic retinochoroidosis. They had unilateral decreased visual acuity, normal bilateral tonometry, and biomicroscopy. Funduscopy showed bilateral and unilateral myopic maculopathy, and Optical Coherence Tomography (OCT) showed a dome shaped macula with neurosensory detachment. Treatment was started with spironolactone and an improvement by OCT was shown in all cases. DISCUSSION: The etiopathogenic mechanism of the dome shaped macula is discussed. OCT demonstrated to be the fundamental test in the follow-up of this condition. After the evidence shown, initial treatment with spironolactone is suggested.
Subject(s)
Chorioretinitis/etiology , Macula Lutea/pathology , Myopia/etiology , Spironolactone/therapeutic use , Adult , Chorioretinitis/drug therapy , Drug Substitution , Female , Humans , Middle Aged , Myopia/physiopathology , Ranibizumab/therapeutic use , Receptors, Mineralocorticoid/metabolism , Receptors, Vascular Endothelial Growth Factor/therapeutic use , Recombinant Fusion Proteins/therapeutic use , Tomography, Optical Coherence , Young AdultABSTRACT
CASE REPORT: 78 year-old female patient being investigated for a left orbital pseudotumour of 17 days onset. She had proptosis, pain, with no limitation of eye movements, periorbital oedema, and upper eyelid ptosis, compatible with an orbital pseudotumour. The MRI showed an upper outer left orbital mass adjacent to the side of eyeball and an increase in soft tissue at the level of lacrimal gland. The histopathology study of an eyelid lesion demonstrated the presence of non-caseating granulomas. DISCUSSION: A definitive diagnosis of orbital sarcoidosis was made. Oral treatment with corticosteroids and methotrexate achieved gradual control of the disease.
Subject(s)
Eyelid Diseases/etiology , Magnetic Resonance Imaging , Orbital Pseudotumor/etiology , Sarcoidosis/complications , Adrenal Cortex Hormones/therapeutic use , Aged , Biopsy , Drug Therapy, Combination , Eyelid Diseases/diagnosis , Eyelid Diseases/drug therapy , Female , Granuloma/diagnosis , Granuloma/drug therapy , Granuloma/etiology , Humans , Immunosuppressive Agents/therapeutic use , Methotrexate/therapeutic use , Orbital Pseudotumor/drug therapy , Remission Induction , Sarcoidosis/diagnosis , Sarcoidosis/drug therapyABSTRACT
CASE REPORT: A 17 year-old male patient, who since 2000 has referred to a progressive bilateral decrease in visual acuity. A "bicycle wheel" macula pattern was observed in his retina. The electroretinogram showed a decrease in the b-wave amplitude. The visual evoked potentials were normal. Optical coherence tomography showed bilateral macular edema. All this supported the diagnosis of X-linked retinoschisis. DISCUSSION: Genetic counseling was given and the pattern of X-linked inheritance was explained. A significant improvement of the macular thickness was observed after treatment with topical dorzolamide and oral acetazolamide.
Subject(s)
Acetazolamide/administration & dosage , Carbonic Anhydrase Inhibitors/therapeutic use , Retinoschisis/drug therapy , Sulfonamides/administration & dosage , Thiophenes/administration & dosage , Administration, Topical , Adolescent , Humans , MaleABSTRACT
OBJECTIVE: Diabetes mellitus is considered the most common cause of blindness in the working population of industrialized countries, with diabetic macular edema being the most common cause of decreased visual acuity and proliferative diabetic retinopathy (PDR) being responsible for the most severe visual deficits. We have therefore tried to establish a guide for clinical intervention whose purpose is to provide orientation on the treatment of diabetic retinopathy and its complications. This is necessary at a time when many treatment options have emerged whose role is not yet fully defined. METHOD: A group of expert retina specialists selected by the SERV (Vitreous-Retina Spanish Society) assessed the published results of different treatment options currently available, suggesting lines of action according to the degree of diabetic retinopathy present and the presence or absence of macular edema. RESULTS: PDR is primarily treated with pan-retinal photocoagulation. For clinically significant diabetic macular edema without signs of vitreomacular traction, the treatment of choice continues to be focal/grid photocoagulation. Similarly, retinovitreal surgery is indicated for both conditions. The use of antiangiogenic drugs was also analyzed but remains inconclusive. CONCLUSION: Laser therapy is effective in the management of diabetic retinopathy and diabetic macular edema. The role of antiangiogenics is not yet sufficiently defined.
