ABSTRACT
Purpose: We report a first case of bilateral occult macular dystrophy (OMD) with a c.133C>T (p.Arg45Trp) pathogenic variant in the retinitis pigmentosa 1-like 1 (RP1L1) gene in a patient of Caucasian Swiss decent. Observations: A 34-year-old man presented with decreased visual acuity known since childhood. Fundus examination of both eyes revealed no pathology other than mildly increased granularity of the foveal retinal pigment epithelium. The full-field electroretinogram (ffERG) presented with normal findings while the multifocal electroretinogram (mfERG) showed severely reduced amplitudes of the foveal response. Optical coherence tomography (OCT) showed foveal outer retinal atrophy. Fundus autofluorescence (FAF) imaging demonstrated near-normal findings with minimal mottling at the posterior pole. The genetic analysis revealed a heterozygous pathogenic variant (c.133C>T, p.Arg45Trp) in the RP1L1 gene. Conclusion and importance: Our present case suggests that OMD shows a wide range of clinical presentations with a variety of ophthalmological findings, age of disease onset, visual acuity, and genetic diversity.
Subject(s)
Hyperpigmentation/diagnosis , Ochronosis/diagnosis , Conjunctiva , Cornea , Humans , ScleraABSTRACT
BACKGROUND: Therapy of neovascular age-related macular degeneration, diabetic maculopathy and macular edema after retinal vein occlusion has changed fundamentally since the introduction of anti-VEGF therapy more than 10 years ago. With the technological progress in ocular coherence tomography (OCT) functional criteria have been replaced by more morphological criteria. Contract law and administrative problems have been improved but not solved totally. PATIENTS/MATERIALS AND METHODS: In a retrospective study, 207 eyes of 157 patients who presented between January 2007 and October 2013 with neovascular age-related macular degeneration, diabetic maculopathy or macular edema after retinal vein occlusion were analyzed. Baseline visual acuity (VA) was 0.25 (median). RESULTS: After initial anti-VEGF upload, there was a significant increase in VA from 0.25 to 0.32 (p < 0.001). Patients with bad VA profited most (p = 0.004). Patients with more intravitreal injections had a larger increase in VA (p = 0.002). In the mainly VA-controlled group of the first years, VA decreased to 0.05 after one year and 3.49 intravitreal injections in the mean. In the OCT-controlled group of the later years, the initial increase in VA could be held after one year and 5.03 intravitreal anti-VEGF applications in the mean. There was a significant difference in the course of VA between the two groups (p = 0.001). Mean interval between indication and start of therapy was 25.34 days in the early years, and 5.40 days in the later years. CONCLUSION: Mainly VA-based criteria in the anti-VEGF therapy of the early years seem to be inferior to morphological criteria of the later years. Contract law and administrative problems have delayed the time between indication and start of therapy and, thereby, contributed to undersupply and worsening functional results.
Subject(s)
Macular Edema , Retinal Vein Occlusion , Angiogenesis Inhibitors , Bevacizumab , Diabetes Complications , Humans , Intravitreal Injections , Retrospective Studies , Tomography, Optical Coherence , Vascular Endothelial Growth Factor AABSTRACT
BACKGROUND: To evaluate the possible effects of multiple intravitreal anti-vascular endothelial growth factor (VEGF) injections on intraocular pressure (IOP). METHODS: This study included 50 eyes of 50 patients who underwent multiple (≥ 10 injections) intravitreal anti-VEGF injections in one eye with age-related macular degeneration, diabetic macular edema or retinal vein occlusion. IOP was recorded after every injection on the first postoperative day. IOP > 21 mmHg was regarded as abnormal. For statistical analysis, the IOP was correlated with the number of injections. RESULTS: A total of 669 IOP-measurements (mean 13.4 treatment/eye) were analyzed. No IOP-elevation was recorded in 43 eyes (86%). Transient elevated IOP > 21 mmHg was measured after 19 intravitreal injections (2.8%, one patients with 8 IOP elevations). In general, there was no increasing risk of IOP elevation with time, no case of sustained IOP elevation and no additional long term glaucoma treatment necessary. Eyes with pre-existing glaucoma were significantly more affected from transient IOP-elevation than non-glaucoma eyes (5.5 vs. 2.2%). CONCLUSIONS: Multiple anti-VEGF injections are not associated with an increased risk of sustained IOP-elevation. On the other hand, individual risk factors exist and predispose to IOP-elevation (e.g., pre-existing glaucoma).
