Modern diagnostic and therapeutic approaches in familial maculopathy with reference to North Carolina macular dystrophy.

AIMS: We present a familial hereditary macular dystrophy, resembling North Carolina Macular Dystrophy. In members of a family, we describe the development of diagnostic-therapeutic approaches and their impact on the prognosis of those whose vision was affected. METHODS: The macular dystrophy of varying degrees of severity was diagnosed in 3 consecutive generations in different family members, both men and women. Modern therapeutic tools were used for the diagnostics. In one patient of the youngest generation, the development of secondary choroidal neovascularization (CNV) was identified and treated with an anti-VEGF (vascular endothelial growth factor) agent. DNA was isolated from venous blood and genome sequencing was performed in a proband. RESULTS: We analysed the data of 13 members of one family of three consecutive generations. Six of them had macular dystrophy. The first were two of three siblings, a woman (73 years old) and a man (67). The offspring of the afflicted man, a female (36) and a male (80), had maculopathy. The first daughter of the woman (12) revealed findings of maculopathy but with normal electrical activity of the retina. The second girl (18), developed secondary CNV which responded well to intravitreal anti-VEGF treatment. Genetic analysis excluded mutations previously reported to be pathogenic for NCMD. CONCLUSION: If there is a maculopathy of unclear etiology in younger patients or in patients with unclear development or appearance, it is advisable to focus carefully on the family history and trace the occurrence of impaired vision in other family members.

Vision before and after scharioth macular lens implantation in patients with AMD: an electrophysiological study.

BACKGROUND: For patients with age-related macular degeneration (AMD), a special intraocular lens implantation partially compensates for the loss in the central part of the visual field. For six months, we evaluated changes in neurophysiological parameters in patients implanted with a "Scharioth macula lens" (SML; a center near high add + 10 D and peripheral plano carrier bifocal lens designed to be located between the iris and an artificial lens). METHODS: Fourteen patients (5 M, 9 F, 63-87 years) with dry AMD were examined prior to and at 3 days after, as well as 1, 2, and 6 months after, implantation using pattern-reversal, motion-onset, and cognitive evoked potentials, psychophysical tests evaluating distant and near visual acuity, and contrast sensitivity. RESULTS: Near visual acuity without an external aid was significantly better six months after implantation than before implantation (Jaeger table median (lower; upper quartile): 4 (1; 6) vs. 15 (13; 17)). Distant visual acuity was significantly altered between the pre- (0.7 (0.5; 0.8) logMAR) and last postimplantation visits (0.8 (0.7; 0.8) logMAR), which matched prolongation of the P100 peak time (147 (135; 151) ms vs. 161 (141; 166) ms) of 15 arc min pattern-reversal VEPs and N2 peak time (191.5 (186.5; 214.5) ms vs. 205 (187; 218) ms) of peripheral motion-onset VEPs. CONCLUSION: SML implantation significantly improved near vision. We also observed a slight but significant decrease in distant and peripheral vision. The most efficient electrophysiological approach to test patients with SML was the peripheral motion-onset stimulation, which evoked repeatable and readable VEPs.

Two-year results of a combined regimen of aflibercept treatment in three types of choroidal neovascular membrane in the wet form of age-related macular degeneration: Real-life evidence in the Czech Republic.

AIM: To present the results of a 2-year therapy with aflibercept in real-life practice in a mixed regimen in patients with a neovascular form of age-related macular degeneration (nAMD) and to evaluate the treatment response of various types of choroidal neovascular membranes (CNV) - occult (Type 1), classic (Type 2) and minimally classic (Type 4). METHODS: This was a multicentric, prospective, observational study of a series of cases. Patients diagnosed with the wet form of AMD were treated in a fixed regimen (3 injections at intervals of 1 month and then injections at 8-week intervals) in the first year, and in a pro re nata regimen (PRN) in the second year. The period of investigation was 24 months. The development of the best corrected visual acuity (BCVA) was evaluated by means of ETDRS optotypes (Early Treatment Diabetic Retinopathy Study) and the central retinal thickness (CRT). Measurements were performed prior to the commencement of therapy and then after 4, 8, 12, 16, 20 and 24 months. RESULTS: The therapeutically naïve group consisted of 135 eyes of 135 patients. Sixty-one eyes suffered from CNV of the 1st type, 50 eyes from CNV of the 2nd type and 24 eyes from CNV of the 4th type. The average baseline of BCVA ± SD in Type 1 CNV was 56.1 ± 10.8 letters of ETDRS, and then, respectively, 62.2 ± 12.9 letters, 62.8 ± 15.1 letters and 59.4 ± 13.2 letters after 4, 12 and 24 months. The average baseline value of CRT ± SD for Type 1 CNV was 442.4 ± 194.9 µm, and then 302.5 ± 144.4 µm, 277.7 ± 106.5 µm and 327.6 ± 138.6 µm at months 4, 12 and 24. The average baseline value of BCVA ± SD in Type 2 CNV was 55.6 ± 9.9 letters of ETDRS, and then 62.5 ± 11.1 letters, 62.5 ± 14.2 letters and 60.6 ± 15.1 letters after 4, 12 and 24 months. The average baseline value of CRT ± SD in Type 2 CNV was 446.8 ± 159.1 µm, and then 327.4 ± 127.0 µm, 316.7 ± 139.1 µm and 352.5 ± 132.4 µm at 4, 12 and 24 months. In Type 4 CNV, the average baseline value of BCVA ± SD was 56.7 ± 9.0 letters of ETDRS, and then 59.1 ± 10.6 letters, 59.2 ± 12.6 letters and 58 ± 8.8 letters after 4, 12 and 24 months. The average baseline value of CRT ± SD in Type 4 CNV was 492.1 ± 187.0 µm, and then 333.3 ± 137.5 µm, 326.7 ± 122.4 µm and 328.4 ± 132 µm at months 4, 12 and 24. All these changes were statistically significant (p < 0.05). CONCLUSION: Therapy with aflibercept in a mixed regimen in patients with the wet form of AMD during the investigation resulted in a statistically significant improvement in BCVA and decrease in CRT in both the occult and classic type of CNV. Both the functional and anatomical response to therapy was worse in the minimally classic type (Type 4) of CNV. SUMMARY DECLARATION: Patients suffering from the neovascular form of age-related macular degeneration were treated with aflibercept in a mixed regimen (fixed in the first year and PRN in the second year). After 24 months of examination, a significant improvement of both morphological and functional results was observed in three types of choroidal neovascular membrane.

Results of Ranibizumab Treatment of the Myopic Choroidal Neovascular Membrane according to the Axial Length of the Eye.

AIM: A retrospective evaluation of the results of treatment of myopic choroidal neovascularization (mCNV) with intravitreal injections of ranibizumab in a pro re nata (PRN) regimen in three groups of patients distributed according to axial length. METHODS: The paper presents a retrospective multicenter study carried out with the cooperation of several Departments of Ophthalmology in the Czech Republic. The study included 60 eyes of 60 patients suffering from mCNV, divided according to axial length into three groups. The first group consisted of 20 patients with an axial length of the eyes shorter than 28 mm (Group 1), the second group included 27 patients with axial lengths ranging from 28 mm to 29.81 mm (Group 2), and 13 patients had axial lengths longer than 30 mm (Group 3). All patients were first administered 3 initial intravitreal ranibizumab injections at monthly intervals (loading phase), and other injections were administered according to a PRN treatment regimen. Patients were evaluated before treatment and then at intervals of 3, 6, 9, and 12 months. The effect of ranibizumab treatment on the functional and morphological parameters of the affected eye was evaluated. RESULTS: The average baseline BCVA ± SD in Group 1 was 52.6 ± 12.5 letters of ETDRS optotypes, and at the end of the one-year follow-up, it was 63.3 ± 11.8 letters. The average baseline of CRT ± SD in this group was 377.4 ± 80.0 µm, and in the 12th month, it was 311.1 ± 63.7 µm. The average baseline BCVA ± SD in Group 2 was 50.2 ± 9.0 ETDRS letters, and at the end of the follow-up, it was 60 ± 12.4 letters. The average baseline of CRT ± SD in Group 2 was 391.2 ± 85.2 µm, and in the 12th month, it was 323.9 ± 91.2 µm. In Group 3, the average baseline of BCVA was 48.5 ± 14.5 ETDRS letters, and at the end of the one-year follow-up, it was 55.7 ± 16.1 letters. The average baseline CRT ± SD for Group 3 was 342.1 ± 94.9 µm, and after 12 months, it was 287.8 ± 88.4 µm. An improvement of BCVA by ≥15 letters of ETDRS optotypes was achieved by 3 patients of 20 (15%) in Group 1, by 5 patients of 27 (18.5%) in Group 2, and by 3 patients of 13 (23.1%) in Group 3. All these changes were statistically significant in comparison with the input values (p < 0.05). CONCLUSION: Ranibizumab treatment in patients with mCNV in our study resulted in statistically significant improvement in BCVA and a decrease in CRT in all groups of patients. Our results from a routine clinical practice correspond with the results of large clinical studies; we confirm a particularly good effect of treatment in patients with axial lengths of the eye smaller than 28 mm.

Normotensive glaucoma.

This article provides an updated overview of the structural and functional changes in normotensive glaucoma and its variations from hypertensive glaucoma. The authors point out the less familiar facts in which both diagnostic groups differ.