Giuseppe de Crecchio

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X‐linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

Evaluation of Morning Glory Syndrome with Spectral Optical Coherence Tomography and Echography

PURPOSE To evaluate eyes affected by morning glory syndrome (MGS) with spectral-domain optical coherence tomography (SD OCT) and echography. DESIGN Prospective case series. PARTICIPANTS Nineteen patients (22 eyes) with MGS observed at the Eye Department, University of Naples Federico II, Naples, Italy. METHODS All patients underwent a complete ophthalmologic examination that included best-correct visual acuity, fundus photography, and echography. Nine patients underwent SD OCT and high-frequency B-scan echography (20 MHz). MAIN OUTCOME MEASURES Spectral-domain optical coherence tomography and echographic findings in MGS. RESULTS Spectral-domain optical coherence tomography revealed retinal detachment in the conus area of 5 eyes: 4 with noncontractile MGS (NCMGS) and 1 with contractile MGS (CMGS). There was evidence of a retinal break in only 2 cases. All 5 eyes had an abnormal communication between the subarachnoid space and the subretinal space. Spectral-domain optical coherence tomography did not reveal differences between CMGS and NCMGS. Echographic examination did not reveal any anatomic abnormalities of the optic nerve or orbit. CONCLUSIONS Spectral-domain optical coherence tomography provides more information than echography about the posterior pole, whereas echographic examination is the only technique that can confirm the anatomic integrity of the optic nerve in the orbital wall. Retinal detachment in MGS generally is ascribed to abnormal communication between the subretinal and subarachnoid or vitreous compartments. These data suggest that myopialike retinal detachment without a retinal break may result from tissue stretching around the peripapillary conus.

Congenital macular macrovessels

BackgroundCongenital aberrant macular vessels are rare and may cause visual impairment when crossing the fovea, when causing the formation of foveolar cysts, or when haemorrhage occurs.MethodsFrom the records of patients with vascular anomalies seen at the Retina Department of the University Federico II in Naples from 1980 to 2005, we reviewed all cases presenting an abnormal, large, retinal vessel crossing the macular region.ResultsAn anomalous macular macrovessel was present in 13 cases. Follow-up ranged from 3 months to 21 years (mean 14 years). In all cases the abnormal vessel was a vein, presenting a fluoroangiographic early filling and delayed emptying. In some cases there were microvascular bed anomalies, such as enlargement of the foveal avascular zone, focal capillary dilation, or microaneurysmal abnormalities. In one case late, mild, intraretinal staining along the anomalous vessel indicated retinal oedema. Visual impairment occurred in five eyes, being caused by a preretinal haemorrhage in one case and by the mere presence of the macrovessel in the foveal area in four cases, and had not improved at following controls.ConclusionIn the presence of an aberrant vessel crossing the macular region, visual acuity and ophthalmoscopic and fluoroangiographic findings tend to have remained stable at long-term follow-up.

Microperimetry of Subretinal Drusenoid Deposits

Purpose: To investigate light sensitivity in eyes presenting with subretinal drusenoid deposits (SDD). Methods: All consecutive patients with SDD only seen between January 2012 and July 2012 were included. A control group of consecutive age- and sex-matched control subjects presenting at least one eye with early age-related macular degeneration was considered. In all cases best-corrected visual acuity (BCVA), color fundus photography, fundus autofluorescence imaging and spectral-domain-optical coherence tomography with integrated microperimetry were performed. Results: Twenty-one eyes (21 patients, 9 females, 12 males, mean age 69.2 ± 5.3 years, mean BCVA 0.18 ± 0.14 LogMAR) were included in the SDD group. Twenty eyes of 20 patients (13 females, 7 males, mean age 69.1 ± 3.9 years, mean BCVA 0.16 ± 0.15 LogMAR) were included in the control group. In eyes with SDD the choroid was thinner at the subfoveal location, and at 1,500 μm superior, inferior, temporal and nasal to the fovea (p < 0.05). In eyes with SDD, the overall mean light sensitivity in the central macula (4.21 ± 2.46 dB) was significantly reduced when compared to the control group (6.81 ± 2.12 dB, p = 0.001), while stable fixation was present in both groups. Correlation between BCVA and mean light sensitivity in the central 7 × 7 mm square was low in the SDD group (Pearsons rho = 0.4, p = 0.01), while it was good in the control group (Pearsons rho = 0.7, p = 0.001). Conclusions: Eyes with SDD showed reduced sensitivity despite preserved BCVA. Reduced choroidal thickness could be involved in reduction of light sensitivity.

Choroidal Thickness in Open-Angle Glaucoma Measured by Spectral-Domain Scanning Laser Ophthalmoscopy/Optical Coherence Tomography

Aims: To measure macular choroidal thickness in healthy and glaucomatous eyes using spectral-domain scanning laser ophthalmoscopy/optical coherence tomography. Methods: Choroidal thickness was measured in 21 healthy eyes and 16 glaucomatous eyes. Choroidal thickness was measured under the fovea and at 500-µm intervals from the foveal center to 4 mm in the nasal and temporal directions. Vessels were counted in a macular area of 8,000 µm2. Only choroidal vessels with a horizontal diameter of at least 155 µm and a vertical diameter of at least 50 µm were considered. Results: The mean choroidal thickness was greatest below the fovea, i.e. 343.8 µm (SD ±29.06) in controls and 411.56 µm (SD ±33.60; p < 0.001) in the glaucomatous group. The mean vertical diameter was significantly greater (p = 0.008) in glaucomatous eyes (112.18 ± 37.64 µm) than in healthy eyes (103.98 ± 25.67 µm), whereas the luminal area of vessels was significantly larger (p = 0.3) in glaucomatous eyes (39,157.34 ± 21,657.23 µm2) than in healthy eyes (43,779.84 ± 22,874.87 µm2). Conclusions: We show that choroidal thickness is increased in glaucomatous eyes due to an increase in both the vertical diameter and the luminal area of the vessels. This seems to implicate the choroid in the pathogenesis of open-angle glaucoma.

Optical coherence tomography angiography versus fluorescein angiography in the diagnosis of ischaemic diabetic maculopathy

To evaluate the efficacy of optical coherence tomography (OCT) angiography versus fluorescein angiography (FA) in terms of retinal vessel imaging in ischaemic diabetic maculopathy defined according to the Early Treatment Diabetic Retinopathy Study (ETDRS) classification.

Evaluation of ischemic diabetic maculopathy with Fourier-domain optical coherence tomography and microperimetry.

OBJECTIVE To evaluate the efficacy of high-speed Fourier-domain optical coherence tomography (FD-OCT) and fundus microperimetry (MP-1) in identifying the anatomic and functional features of ischemic diabetic maculopathy. DESIGN Prospective noninterventional study. PARTICIPANTS Forty-two consecutive eyes (23 patients) with ischemic diabetic maculopathy and 40 normal eyes (25 control subjects) were included in this study. METHODS Best corrected visual acuity, ganglion cell complex (GCC) thickness measured with FD-OCT, and central light sensitivity recorded with MP-1 were evaluated. RESULTS GCC thickness and light sensitivity were significantly reduced in all affected eyes versus control eyes. logMAR BVCA was significantly correlated with mean macular sensitivity (R=0.783, R(2)=0.611). CONCLUSIONS GCC thickness and microperimetry integrated with fluorescein angiography could be a marker of retinal vascular abnormalities that is useful for the diagnosis of ischemic diabetic maculopathy.

An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration.

PURPOSE We studied an Italian family affected by the autosomal dominant form of microcephaly and chorioretinal degeneration that was characterized by various degrees of clinical expression. METHODS An ophthalmologic examination, including visual acuity, visual field testing, an electroretinogram, and fundus photography, and a neurologic examination, including neurodevelopmental status and neuroimaging studies, were performed for all subjects. Skeletal radiography, chromosome studies, and serologic investigations were also performed. RESULTS In this family, only two of the six affected members had an association of microcephaly, myopia, and chorioretinal degeneration. The other family members showed microcephaly, slight mental retardation, and short stature, but not chorioretinopathy. CONCLUSIONS The significant finding in members from this dominant pedigree of microcephaly was the association of short stature and high myopia, heretofore seen only in families with recessive microcephaly. These findings could be useful for genetic counseling in the apparently isolated forms of microcephaly with chorioretinopathy.

Combination of Flavonoids with Centella asiatica and Melilotus for Diabetic Cystoid Macular Edema Without Macular Thickening

PURPOSE The purpose of this study was to evaluate the orally administered combination of flavonoids desmin and troxerutin with Centella asiatica and Melilotus for the treatment of diabetic cystoid macular edema (CME) without macular thickening. METHODS In this prospective, interventional, controlled study, 40 consecutive patients with type 2 diabetes and CME without macular thickening at optical coherence tomography were randomized into 2 groups of 20 subjects each (treatment and control groups). The treatment group received an oral combination of desmin (300 mg/day) and troxerutin (300 mg/day) with C. asiatica (30 mg/die) and Melilotus (160 mg/die) for 14 months. Best collected visual acuity, central retinal thickness at optical coherence tomography, retinal sensitivity (RS), and stability of fixation at microperimetry were measured at baseline and monthly for 14 months. RESULTS In both groups, mean best collected visual acuity, central retinal thickness, and stability of fixation did not show differences during follow-up (P > 0.05). At month 14, the RS was greater in the treated group (P = 0.01) and was significantly reduced in the control group only (P < 0.001). Five eyes in the study group showed disappearance of the intraretinal cysts after a mean time of 3.5 ± 0.3 months, which persisted in the following months. These 5 eyes presented a greater RS at each follow-up visit when compared with the control group (P < 0.05). Anatomic improvement was never reported in the control group. CONCLUSIONS The orally administered combination of flavonoids, C. asiatica, and Melilotus could be beneficial in preserving RS in diabetic CME without macular thickening.

Clinical Evolution of Neuroretinitis in Parry–Romberg Syndrome

A 16-year-old girl with Parry-Romberg syndrome presented with monolateral exudative neuroretinitis and retinal telangiectasis that had been observed for 42 months. She was treated with immunosuppressive therapy with A-cyclosporine for 1 year, followed by laser treatment of telangiectasis. Her visual acuity improved from 20/200 to 20/70 in 1 year with a reduction of neuroretinal exudation. Laser treatment resulted in a further improvement of visual acuity to 20/40. Clinical findings remained unchanged during 2 years of follow-up. The association of immunosuppressive treatment and laser therapy may improve neuroretinal disease in the presence of Parry-Romberg syndrome.