Kenichi Kozaki

Subfoveal choroidal thickness in multiple evanescent white dot syndrome

Background:  Multiple evanescent white dot syndrome (MEWDS) is an inflammation of the choriocapillaris, which typically presents with unilateral vision loss and is characterised by the presence of multiple yellow‐white spots in the posterior pole to the midperipheral fundus. This study was conduced to evaluate subfoveal choroidal thickness between the acute and convalescent phases in two patients with MEWDS.

Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).

Purpose. To characterize clinical features in occult macular dystrophy (OMD) patients with the RP1L1 gene mutation (p.R45W), one of two previously described mutations in Japanese OMD patients. Methods. Mutational screening of the RP1L1 gene was performed via polymerase chain reaction and direct sequencing for seven unrelated probands (one autosomal dominant and six sporadic probands) with OMD. A comprehensive ophthalmic examination was performed, including Cirrus optical coherence tomography. Full-field electroretinography (ERG), multifocal ERG, and focal macular ERG were performed. Results. The heterozygous mutation (p.R45W) was found in only one female proband with autosomal dominant OMD, whose mother was also diagnosed with OMD and carried the mutation. Ophthalmoscopy showed bilateral normal fundi in the proband but subtle retinal pigment epithelium mottling in the mother. Both the proband and her mother had typical OMD findings: decreased visual acuity and markedly reduced central responses in the multifocal ERG and focal macular ERG. Although full-field ERG revealed normal rod and standard combined responses, photopic and 30-Hz flicker responses were slightly reduced in both the proband and her mother. Optical coherence tomography revealed that the external limiting membrane and inner segment-outer segment boundary were disorganized despite normal macular thickness in the proband, whereas the mother exhibited macular thinning with discontinuous reflectivity of the external limiting membrane and inner segment-outer segment boundary. Conclusions. The clinical phenotypes differed between the proband and her mother and were indistinguishable from other sporadic or RP1L1-unassociated OMD patients, suggesting that mutation-dependent clinical features may not be present.

Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene

Aim/Background: A 1-bp deletion (1147delA) in the SAG (also known as arrestin or S-antigen) gene is the most frequently seen mutation in Japanese patients suffering from Oguchi disease, a recessively inherited stationary night blindness. We investigated macular function in a patient with Oguchi disease with the 1147delA mutation. Methods: A 43-year-old Japanese male patient was diagnosed with Oguchi disease. The patient underwent complete ophthalmic examinations, including spectral-domain optical coherence tomography and Humphrey visual field testing. Full-field electroretinograms (ff-ERG) and multifocal ERG (mf-ERG) were recorded. Mutational analysis of the SAG gene was performed. Results: Corrected visual acuity was good in both eyes. Funduscopy showed retinal pigment epithelium atrophy along the vascular arcade bilaterally. The inner segment-outer segment (ISOS) boundary lines were preserved in the foveal and parafoveal areas, whereas ISOS boundary defects and thinning of the outer nuclear layer (ONL) were seen outside the preserved ISOS boundary. Humphrey testing showed significant paracentral field defects in both eyes. In addition to an absence of rod responses, cone and 30-Hz flicker responses were markedly reduced in ff-ERG. The central (ring 1) and paracentral (ring 2) responses with normal latencies were relatively preserved, but the outer waveforms (rings 3–5) were attenuated and prolonged in mf-ERG. The deletion mutation (1147delA) was identified homozygously. Conclusions: The reduced/delayed mf-ERG responses and visual field defects in paracentral macula areas are most likely to be correlated with ISOS boundary defects and thinning of the ONL. Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene.

Clinical heterogeneity between two Japanese siblings with congenital achromatopsia.

Congenital achromatopsia is a stationary retinal disorder with autosomal recessive inheritance. It is characterized by significant attenuation of cone-photoreceptor function. Symptoms include photophobia, nystagmus, and poor visual acuity from birth. Unlike in cone or cone-rod dystrophies, the retinal fundus usually appears normal. Here we describe two siblings with congenital achromatopsia, who exhibit different ophthalmic phenotypes. History was taken, and ophthalmic examinations were performed in a 7-year-old girl and her 5-year-old brother, who were referred to our department because of poor visual acuity. Two of their grandparents were brother and sister, suggesting an autosomal recessive transmission in inheritance. They have been followed for more than 13 years since the initial evaluation. Symptoms, visual acuity, and kinetic visual field were very similar to each other, consistent with findings of typical congenital achromatopsia. However, color-vision tests suggested that the brother had residual color discrimination, but the sister did not. The siblings had different full-field electroretinographic and spectral-sensitivity findings: residual cone functions were detected in only the brother, in agreement with his residual color vision. They also had different findings of retinal fundi and ocular refractions: the sister had bilaterally atrophic-appearing macular lesions and myopic errors. In contrast, the brother remains hyperopia and has exhibited no specific retinal findings until age 18 years. The causes why both complete and incomplete achromats occur in the siblings are uncertain but might be caused by modifying effects of sex-related genes or by environmental factors influencing certain gene regulations in cone photoreceptors.

Change in anterior chamber depth following combined pars plana vitrectomy, phacoemulsification, and intraocular lens implantation using different types of intraocular lenses

PurposeTo examine whether the type of intraocular lens (IOL) used in combined pars plana vitrectomy, phacoemulsification, and IOL implantation affects the changes in anterior chamber depth over time.MethodsA retrospective review was carried out on data from 70 eyes of 70 patients who underwent combined vitrectomy and cataract surgery. Vitrectomy using a 23-gauge system was performed on 66 eyes and using a 25-gauge system on four eyes. The implanted IOLs were the HOYA VA-65BB lens in 38 eyes (6.5-mm group) and the ETERNITY X-70 lens in 32 eyes (7-mm group). Anterior chamber depth was measured using a PENTACAM analyzer before surgery and 1 week, 1 month, and 3 months after surgery.ResultsIn the 7-mm group, no differences were found in anterior chamber depth between eyes with and without fluid-gas exchange at any point of time after surgery. In the 6.5-mm group, eyes undergoing fluid-gas exchange showed an increase in anterior chamber depth between 1 week and 1 month after surgery. In eyes undergoing fluid-gas exchange, anterior chamber depth 1 week after surgery was shallower in the 6.5-mm group than in the 7-mm group.ConclusionDifferent types of three-piece IOLs showed different degrees of shift due to fluid-gas exchange.

Multifocal electroretinographic evaluation of macular function in acute posterior multifocal placoid pigment epitheliopathy

BackgroundIn acute posterior multifocal placoid pigment epitheliopathy (APMPPE), little is known about the long-term outcome of electroretinographic macular function. The purpose of this study was to report 2-year follow-up results of multifocal electroretinography (mfERG) in a 26-year-old Japanese woman diagnosed with APMPPE.MethodsClinical and electrophysiological investigations of a single patient.ResultsBest-corrected visual acuity at initial examination was 1.5 and 0.5 in her right and left eyes, respectively. In addition to characteristic fundus lesions bilaterally, fluorescein angiography demonstrated diagnostic early blockage and late staining of the lesions. Optical coherence tomography revealed a hyperreflective spot (corresponding to the lesion) in the outer retinal layer in the right eye and intraretinal fluid in the left eye. On mfERG, the amplitudes were generally preserved, but markedly reduced amplitudes were detected in the central region of the left eye and in the paracentral region of the right eye. Five days later, visual acuity improved to 1.0, and the intraretinal fluid spontaneously disappeared without medication in the left eye. Light-to-dark ratios on electrooculography were 2.68 and 2.23 in the right and left eyes, respectively, both within the normal range. Two years later, visual acuity was 2.0 in both eyes, and ophthalmoscopically, there were neither retinal nor retinal pigment epithelial (RPE) abnormalities. mfERG revealed that the amplitudes were considerably improved (nearly normal level) in both eyes.Conclusions The outcome suggests that longitudinal macular function in both visual acuity and mfERG may be favorable, unless areas of retinal or RPE alteration remain.

Contents Vol. 46, 2011

Anatomy, Pathology and Cell Biology A. Prescott, Dundee Biochemistry, Molecular Biology and Molecular Genetics J. Graw, Neuherberg Clinical and Epidemiological Research M. Kojima, Kahoku Cornea and Ocular Surface C. Marfurt, Gary, Ind. Glaucoma H. Th ieme, Mainz Immunology and Microbiology U. Pleyer, Berlin Lens and Cataract S. Varma, Baltimore, Md. Miscellaneous U. Pleyer, Berlin Neuro-Ophthalmology and Vision Sciences P. Aydin, Ankara Ocular Oncology M. Jager, Leiden Physiology, Pharmacology and Toxicology A. Wegener, Bonn Retina and Retinal Cell Biology P. Pereira, Coimbra Editorial Board