A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation.

X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease. Herein, we describe unusual retinal features in a 2-year-old female infant with family history and genetic testing consistent with XLRS.

Circadian phase in delayed sleep phase syndrome: predictors and temporal stability across multiple assessments.

STUDY OBJECTIVES: To assess temporal stability across multiple assessments and predictors of circadian phase in participants with delayed sleep phase syndrome (DSPS), relative to normal-sleeping matched controls. DESIGN: Circadian phase was assessed by salivary dim light melatonin onset (DLMO) during 3 laboratory visits, separated by at least 5 days--2 scheduled at the end of the week (Friday) and 1 scheduled at the end of the weekend (Sunday). PATIENTS: Eight young volunteers who met International Classification of Sleep Disorders-Revised criteria for DSPS, and 8 age- and sex-matched controls (age range 19-27 years old). INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: As expected, salivary DLMO occurred significantly later in patients with DSPS than in controls (F 10.561, p = .006). However, circadian phase did not change significantly across the 3 DLMO assessments in either group. Estimations of circadian phase were not significantly different in the assessments conducted on weekdays versus weekends. Predictors of circadian phase included time of morning light exposure (R2 = 0.777; p < .001), recent wake time (R2 = 0.701, p < .001), and self-reported chronotype (R2 = 0.320, p = .016). DLMO preceded wake time in both groups by approximately 10.75 hours. CONCLUSIONS: Across serial laboratory assessments on an ad lib sleep schedule, patients with DSPS appeared more similar to than different from normal-sleeping control subjects, except for a stable delay in circadian phase.

Relation of dreams to waking concerns.

To test that dreams are influenced by the pre-sleep waking emotional concerns of the sleeper and have an effect on waking adaptation, 20 depressed and 10 control subjects, who were all going through a divorce, were enrolled in a repeated measures study lasting 5 months. A Current Concerns test was administered on three occasions before nights when every REM period was interrupted to record recalled mental content. The degree of waking concern about the ex-spouse correlated significantly with the number of dreams in which the former partner appeared as a dream character. Those who were in remission at the follow-up evaluation had a higher percentage of well-developed dreams than those who remained depressed. Dreams of the former spouse reported by those in remission differed from those who remained depressed in the expression of dream affect and in the within-dream linkage among units of associated memory material. Dreams of the former spouse that are reported by those who are not in remission lack affect and connection to other memories.

REM sleep reduction, mood regulation and remission in untreated depression.

The contribution of increased rapid eye movement (REM) pressure through repeated, mild, reduction of (REM) sleep to remission from untreated depression was studied over a 5-month period in 20 depressed and 10 control volunteers. Sixty percent of the depressed subjects were in remission at the end of the study. Sixty-four percent of the variance in remission could be accounted for by four variables: the initial level of self-reported symptoms, the reported diurnal variability in mood, the degree of overnight reduction in depressed mood following interruptions of REM sleep and the quality of dream reports from these awakenings. Increased REM pressure is beneficial for those who are able to construct well-organized dreams.