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BACKGROUND AND OBJECTIVE:To characterize the photoreceptors and choroidal morphology of heterozygous female carriers of choroideremia who typically do not have any visual defects but can have severe funduscopic changes.PATIENTS AND METHODS:This was a clinical case series study. Detailed ophthalmic examinations were performed on six female carriers from four families with choroideremia. The subfoveal choroidal thickness (SFCT) was determined by spectral-domain optical coherence tomography (SD-OCT) and the cone photoreceptor density by adaptive optics (AO) retinal imaging. SFCT and cone densities of the carriers were compared to that of normal eyes of healthy subjects.RESULTS:The mean age of the carriers was 42.5 years. Fundus photographs showed diffuse, patchy depigmentation; however, the SFCT was within the normal limits. AO retinal imaging revealed preserved cone densities at temporal eccentricities from 2 to 8 angular degrees.CONCLUSIONS:The findings indicate that despite the presence of distinctive depigmentation of the retinal pigment epithelium in female carriers of choroideremia, their cone photoreceptor densities and SFCT are well-preserved. These observations may account for the good visual acuity and lack of an awareness of visual disturbances.[[Ophthalmic Surg Lasers Imaging Retina.2019;50:76–85.]

The retina is an ideal target for gene therapy because of its easy accessibility and limited immunological response. We previously reported that intravitreally injected adeno-associated virus (AAV) vector transduced the inner retina with high efficiency in a rodent model. In large animals, however, the efficiency of retinal transduction was low, because the vitreous and internal limiting membrane (ILM) acted as barriers to transduction. To overcome these barriers in cynomolgus monkeys, we performed vitrectomy (VIT) and ILM peeling before AAV vector injection. Following intravitreal injection of 50 μL triple-mutated self-complementary AAV serotype 2 vector encoding EGFP, transduction efficiency was analyzed. Little expression of GFP was detected in the control and VIT groups, but in the VIT+ILM group, strong GFP expression was detected within the peeled ILM area. To detect potential adverse effects, we monitored the retinas using color fundus photography, optical coherence tomography, and electroretinography. No serious side effects associated with the pretreatment were observed. These results indicate that surgical ILM peeling before AAV vector administration would be safe and useful for efficient transduction of the nonhuman primate retina and provide therapeutic benefits for the treatment of retinal diseases.

Ketonic compounds were prepared from esters using α-stannylmethyllithium as the reagent.

Objectives. The aim of this study was to elucidate the clinical importance of a new subtype of apical hypertrophic cardiomyopathy that could not be diagnosed with the classical diagnostic criteria.

Cilioretinal artery occlusion (CLRAO) is a rare disease. Here, we report the case of a 70-year-old man with nonarteritic cilioretinal artery occlusion alone. The patient was allergic to fluorescein. Therefore, we followed the retinal circulation with optical coherence tomography angiography (OCTA). OCTA at 40 days postonset showed partial improvement in the retinal circulation.

In this article we describe three patients in whom biplane transesophageal echocardiography was useful in diagnosing sinus venosus type atrial septal defects. In two patients, diagnosis of anomalous pulmonary venous drainage was made correctly by biplane transesophageal echocardiography.

Watanabe: Alexion Pharmaceuticals, Inc.: Membership on an entity’s Board of Directors or advisory committees.

Hypophosphatasia (HPP) is an inherited skeletal disease caused by mutations of the ALPLgene that encodes tissue-nonspecific alkaline phosphatase (TNALP). TNALP is an ectoenzyme and plays an essential role in bone mineralization. The major symptoms of HPP are hypomineralization of systemic bones, respiratory insufficiency and epileptic seizures. Perinatal and infantile forms of HPP are often fatal. Since ALP functions on the exterior of the cells, enzyme replacement therapy (ERT) is a potential approach to treat HPP. Currently, Phase II/III clinical trials of ERT using a recombinant TNALP which linked deca-aspartate (D10) at the C terminus for bone targeting are ongoing in North America, Europe and Japan. The perinatal and infantile patients received the ERT showed apparent improvement of the symptoms. However, the ERT is highly invasive for the young patients because it requires repeated subcutaneous administration of large amounts of the enzyme every 3 times a week for long-term correction.

No relevant conflicts of interest to declare.

Abstract 3154

Although most of the effects of prolonged bed rest on cardiovascular system is considered to be mediated by autonomic nervous system, there has been no evidence of change in αadrenergic activity. Cold pressor test has been known to increase vascular resistance through αadrenergic stimulation. To assess if change in αadrenergic activity occurs after prolonged bed rest, blood flow velocity of the proper palmar digital artery of the index finger (resistance vessel) was measured during 90 seconds of cold pressor test by pulsed Doppler ultrasound using a 7.5MHz linear transducer in 10 healthy volunteers before and after 20 days of strict horizontal bed rest. Lower body negative pressure (LBNP) test was performed to measure LBNP tolerance time as an indicator of orthostatic tolerance.

Hypotension during dobutamine stress echocardiography is caused by ischemia as well as non-ischemic causes. To assess if sigmoid interventricular septum seen in the aged can cause hypotension during dobutamine echo, dobutamine echo was performed in 12 subjects with sigmoid interventricular septum (age: 53 to 76 yrs, 8 men and 4 women).

Ischemic process rarely involves the LA. To test the hypothesis that LA booster pump function is impaired in idiopathic dilated cardiomyopathy (DCM) but not in ischemic cardiomyopathy (ICM), peak Doppler mitral flow velocities in early diastole (E) and in atrial systole (A), and other indexes were measured within 24 hours of cardiac catheterization in 48 patients with ICM and 42 with DCM. Patients were divided into subgroups with normal (<12mmHg) and high (≥12mmHg) LV end-diastolic pressure (LVEDP).normal LVEDPhigh LVEDPICMDCMICMDCMn21172725LVEDP (mmHg)8.7±3.2 ns8.2±3.5226±5.1 ns19.8±7.2LV % fraction shortening20±5 ns18±716±5 ns16±6Ecorrected by age (%)101±41 ns96±34106±53 ns94±40Acorrected by age (%)112±45 ns111±51103±47*70±36A/E corrected by age (%)124±46 ns106±58102±45*67±49Atrial filling fraction (%)39±13 ns35±1133±13*21±12LV+dp/dt in atrial systole137±89 ns128±73260±92*217±94*p<0.05, significant difference between ICM and DCM by ANOVA