Purpose: Choroideremia (CHM) is an inherited retinal dystrophy with an X‐linked inherited patron. It presents changes in the outer retina and choroid. CHM has a typical fundus appearance with preservation of the central retina, that progresses over the years. Fundus autofluorescence (FAF) shows the changes in the pigment distribution not only in patients but also in carriers. We present an 8‐year follow‐up of two boys affected by the disease. Methods: We studied a family with two cousins referring visual loss and nyctalopia and presented clinical findings of CHM at 11 and 10 years old. Their mothers referred that their deceased father had an important loss of visual acuity (VA) and that he had been diagnosed of Retinitis Pigmentosa. They were diagnosed of CHM with an undescribed mutation in the CHM gene c.1083_1084dupT (p.L362Sfs*56) at the Xp21.2 location. We present the patients and the carriers follow‐up. Results: During 8 years one of the patients had a progressive loss of VA. He presented a high myopic refraction and retinal changes that could be related to both conditions. His macular function decreased during the years with loss of retinal sensitivity evaluated by MAIA microperimetry, with Multifocal ERG showing a marked diminution on the central peak. His cousin has not presented important changes during the follow‐up time, preserving macular sensitivity and central visual field. Both mothers show a different AF pattern, with one geographic pattern and another sparse mottled on periphery. Carriers have not changed during these 8 years, neither in their retinal function nor in the anatomical findings. Conclusions: Evolution in CHM disease could differ in patients affected by the same mutation. Myopic defect may increase the retinal damage, with a more aggressive evolution.

PurposeDue to its low prevalence Fundus albipunctatus (FA) constitutes a diagnostic challenge for any ophthalmologist. FA belongs to the heterogeneous group of "flecked retinal syndromes" characterised by the presence of a whitish‐yellowish stippling, located in the periphery in FA respecting the macular area with normal papilla and vascularisation. It is a congenital form of non‐progressive night blindness with autosomal recessive inheritance mostly caused by mutations in the RDH5 gene. Electroretinogram (ERG) shows an altered rod response in the dark that normalises with scotopic adaptation.MethodsWe present the case of a 12‐year‐old boy who was referred to our department for retinopathy under consideration. Ophthalmological examination showed a visual acuity of unity in both eyes according to the decimal scale, highlighting in the fundus a peripheral whitish stippling respecting the posterior pole with no other alterations. Given the clinical features suggestive of AF, additional tests were performed.ResultsMultifocal and Ganzfeld bell ERG showed altered rod response with recovery of the scotopic adaptation response. There was an absence of autofluorescence (AF) indicating reduced retinal 11‐cis input to the photoreceptors. Fleckes on Optic Coherence Tomography (OCT) appeared as hyper‐reflective lesions. We confirmed the diagnosis by genetic study showing RDH5 mutation. It was not possible to study relatives.ConclusionsFA is a rare pathology whose characteristics must be known in order to suspect and properly diagnose it, distinguishing it from other similar diseases with a worse prognosis that may require a different follow‐up and approach, such as retinitis punctata albescens or fundus flavimaculatus, for which ERG, OCT and FA play a fundamental role.

PurposeTo compare corneal densitometry obtained using Pentacam HR in the eyes of patients with keratoconus treated with corneal collagen cross‐linking (CXL) versus the eyes of healthy controls.MethodsAn observational case‐control study was carried out on 18 eyes of 15 patients with keratoconus treated with CXL (classical therapy), and 30 eyes of 15 healthy controls, in which ocular pathology had previously been ruled out. All patients underwent a Scheimpflug corneal tomography with Pentacam HR. For the analysis, the backscattering of light is measured in the anterior (120 µm) central and posterior (60 µm) corneal layers.ResultsThe group of patients treated with CXL therapy were 11 men and 4 women, the mean age was 28.06 years (range 17–44 years). In the CXL group the mean light scattering in the previous layer was 24.35 ± 1.074 (C: 21.6 ± 0.68 p > 0.05); central layer 14.68 ± 0.53 (C: 14.48 ± 0.41 p <0.05); posterior layer 10.75 ± 0.35 (C: 11.04 ± 0.36 p < 0.05) and full thickness 16.6 ± 0.62 (C: 15.71 ± 0.44 p < 0.05).ConclusionsThere are statistically significant differences in the densitometry values of the anterior layer of patients with keratoconus treated with CXL compared to healthy controls. We did not find statistically significant differences for the central, posterior and total variables.

Purpose: Blebitis is the infection of the valve created in glaucoma filtering surgery. Only 4 cases have been described that refer to ophthalmic infections caused by A. ustus, the pathogen demonstrated in the cultures in this case. Methods: We present the case of a 73‐year‐old woman with a history of hypertension, dyslipidaemia, hyperuricaemia, hypothyroidism and glaucoma in both eyes under maximum topical treatment, despite which she had elevated intraocular pressure (IOP) and structural progression in the right eye (RE). Trabeculectomy with mitomycin‐C (MMC) was performed in RE. After 36 days, the patient came to the emergency department with a slightly painful red and secretions in RE. Examination revealed a whitish bleb, hyperfiltration, fibrin in the anterior chamber and mild corneal oedema. The vitreous was not found to be involved at any time. A conjunctival swab was taken and treatment was started and the patient was admitted for blebitis 3 days later. Two anterior vitrectomies were necessary, the first with collection of aqueous humour (AH) samples and intravitreal injection of vancomycin, the second, after 3 weeks, with phacoemulsification (leaving the patient in aphakia), collection of AH and vitreous samples and intravitreal injection of voriconazole with the addition of oral fluconazole. Results: Eleven weeks after the first surgery Aspergilus ustus was isolated in vitreous humour samples. After 1 year of follow‐up the patient has visual acuity (VA) of light perception in RE, ptisis bulbi, hypotonia, without pain, discomfort, signs of infection or any other symptoms. Together with her it was decided to perform enucleation. Conclusions: Blebitis is a potentially fatal complication whose risk does not decrease over the years. Being alert to warning signs and symptoms is paramount for early detection and optimal management. To our knowledge this would be the first reported case of A. ustus blebitis.