Kisaburo Yamada

Unusual Protrusion of Conjunctiva in Two Neonates with Harlequin Ichthyosis

Background: We present two patients who developed severe protrusion of the conjunctiva and chemosis secondary to Harlequin ichthyosis (HI). Case Reports: Case 1 was a male infant diagnosed with HI who had parchment-like appearance and conjunctival protrusion with severe chemosis. Case 2 was a female infant on whom HI had been suspected before birth through ultrasonography. She showed thickened skin over the entire body and conjunctival protrusion with severe chemosis. For both cases, a vitamin A derivative was applied and the hyperkeratotic layer was peeled off every day. Great care was taken to sterilize and moisten the ocular surface. The conjunctival protrusion gradually improved and other systemic conditions were successfully treated. HI is a rare condition, but affected infants are surviving longer than previously and hence guidelines for ocular management are now required. Conclusions: Gentle and patient debridement of the hyperkeratotic skin and moisturizing were important in treating the unusual conjunctival protrusion.

Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease

BackgroundTo report the changes in the optical coherence tomography (OCT) images of the outer retinal layers after prolonged dark adaptation in a patient with Oguchi disease.CaseA 75-year-old woman showed the typical golden-yellow fundus reflex of Oguchi disease, and the coloration returned to normal after prolonged dark adaptation. Fourier domain OCT (FD-OCT) was performed on the patient’s left eye before and after prolonged dark adaptation.ObservationsBefore dark adaptation, the FD-OCT images at the fovea had three identifiable reflection bands, namely, the external limiting membrane (ELM), the border between the photoreceptor inner and outer segments (IS/OS line), and the retinal pigment epithelium (RPE)/Bruch band. The paramacular area had only the ELM and RPE/Bruch bands. After 4 h of dark adaptation, the IS/OS line was also detected in the paramacular area.ConclusionsThe absence of the IS/OS line in the extramacular regions in the partly dark adapted condition was most likely due to a defect in the rod photoreceptors of this area. The emergence of the IS/OS line after prolonged dark adaptation suggests that microarchitectural changes occur in the photoreceptors and that the changes may be correlated with the improvement of rod function.

Severe acute ocular ischemia associated with spontaneous internal carotid artery dissection

A healthy 40-year-old man developed unilateral ocular ischemic syndrome as the only manifestation of a spontaneous internal carotid artery dissection.

Photopic Negative Response Reflects Severity of Ocular Circulatory Damage after Central Retinal Artery Occlusion

Purpose: To determine the relationship of the photopic negative response (PhNR) of the photopic electroretinogram (ERG) with the degree of circulatory disturbances in eyes following central retinal artery occlusion (CRAO). Methods: The circulatory disturbance was graded as mild (group 1) when the arm-to-retina transmission time was <30 s, moderate (group 2) when the time was >30 s and severe (group 3) when concurrent choroidal circulatory damage was found. For statistical analysis, groups 1, 2 and 3 were scored as 1, 2 and 3, respectively. Photopic ERGs were elicited by either short-flash (SF) or long-flash (LF) stimuli. Results: Both the SF and LF PhNR were significantly reduced in groups 2 and 3. The PhNR amplitude was negatively correlated with the severity of the ocular circulatory disturbances (p = 0.0498, ρ = –0.507 for SF PhNR; p = 0.0050, ρ = –0.750 for LF PhNR). Conclusion: The amplitude of the PhNR became more reduced as the severity of the circulatory disturbances increased in eyes with CRAO.

Optical coherence tomographic findings of vitreomacular traction syndrome with macular hole retinal detachment

We report on two patients with the vitreomacular traction (VMT) syndrome whose vitreoretinal interface had a unique morphology. Case 1 was a 70-year-old woman who was referred to treat a macular hole retinal detachment (MHRD) in her right eye. Her visual acuity was 0.2, and ophthalmoscopy detected a MHRD of approximately three disc diameters (Fig. 1). Her refractive error (spherical equivalent) was +4.25 dioptres and the axial length was 21.02 mm. Optical coherence tomography (OCT) showed a perifoveal vitreous detachment with focal vitreal adhesions to the fovea, an incomplete posterior vitreous detachment (PVD), and two low reflective lines in the vitreous cavity (Fig. 1). Vitrectomy was performed with phacoemulsification and implantation of an intraocular lens. After a complete PVD was created, the internal limiting membrane (ILM) in the area of the detached retina was peeled off (Fig. 1). The vitreous cavity was

A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4Autosomal Dominant Oculocutaneous Albinism Type 4

Purpose We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis. Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). Results All 16 patients exhibited hypopigmentation of their hair and/or iris. They showed foveal hypoplasia, including 3 patients with grade 1 foveal hypoplasia, 7 with grade 2, and 6 with grade 3. No patient had grade 4 foveal hypoplasia. Optical coherence tomography showed macular ganglion cell complex thinning in the temporal area, and a slight reduction of visual field sensitivity in the centrotemporal area. A maximum multipoint parametric logarithm of the odds (LOD) score of approximately 2.00 to 3.56 was obtained on chromosome 5, spanning approximately 7.2 Mb between rs13187570 and rs395967 that included the SLC45A2 gene. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4. Conclusions The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia.

Switching from intravitreal ranibizumab to bevacizumab for age-related macular degeneration.

Purpose. To report our experiences in patients with age-related macular degeneration (AMD) treated initially with intravitreal ranibizumab and then switched to bevacizumab. Methods. We retrospectively reviewed the records of 7 patients (7 eyes) who were treated with monthly injections of intravitreal ranibizumab and then switched to injections of bevacizumab (every 6 weeks) for six months. The best-corrected visual acuity measurements (BCVA) and optical coherence tomography (OCT) were performed at the baseline examination and then at each visit. The Wilcoxon signed-rank test was used for the statistical analysis. Results. Following three monthly ranibizumab treatments, there was no significant difference in the BCVA, while the foveal retinal thickness (FRT) significantly decreased (P < 0.01). Switching from ranibizumab to bevacizumab resulted in maintenance (57.2%) of the BCVA and a further decrease in the FRT (P < 0.01) after 6 months. Conclusions. Switching to intravitreal bevacizumab may be effective in patients who wish to discontinue intravitreal ranibizumab treatment due to the high cost.

Functional and morphological evaluation of purtscher retinopathy.

PURPOSE To determine the extent of retinal damage in Purtscher retinopathy (PR). METHODS A longitudinal analysis of the retinal morphology and function was made by optical coherence tomography and electroretinography, respectively, on a patient with unilateral PR. RESULTS Optical coherence tomography showed a marked thickening of the inner retinal layers in the acute phase and a thinning of the inner retinal layers and alteration of the outer layers in the chronic phase. The site of these changes corresponded with the cotton-wool patches. The results of electroretinography indicated reduced inner layer function in the acute phase and partial recovery in the chronic phase. CONCLUSION The inner and outer retinal layers are altered morphologically and functionally in eyes with PR. The dynamic evaluation on retinal morphology and function may be useful in understanding the pathophysiology of PR.

Contents Vol. 223, 2009

W. Behrens-Baumann, Magdeburg S. Binder, Wien R. Brancato, Milan A.J. Bron, Oxford J. Cunha Vaz, Coimbra R. Dana, Boston, Mass. S.S. Hayreh, Iowa City, Iowa P.C.P. Ho, Hong Kong Y.-N. Hui, Xian J.B. Jonas, Mannheim A. Kanpolat, Ankara I. Kim, Boston, Mass. T. Kohnen, Frankfurt B. Lorenz, Giessen A. Negi, Kobe U. Pleyer, Berlin T. Reinhard, Freiburg G. Renard, Paris D. Spalton, London K. Tsubota, Tokyo P. Wiedemann, Leipzig X. Xu, Shanghai L. Zografos, Lausanne International Journal of Ophthalmology