Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.Ībstract = "Objective: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. DNA repair plays a major role in protection of the eye from sunlight-induced damage. In addition, ophthalmic characteristics can help refine diagnoses in the case of XP complex phenotypes. Burning and nonburning patients with XP exhibit different rates of important ophthalmologic findings, including neoplasia. Structural eyelid abnormalities, neoplasms of the ocular surface and eyelids, tear film and tear production abnormalities, ocular surface disease and inflammation, and corneal abnormalities were present in this population. Conclusions: Our longitudinal study reports the ocular status of the largest group of patients with XP systematically examined at 1 facility over an extended period of time. Some patients also showed signs of limbal stem cell deficiency. Patients with an acute sunburning skin phenotype were less likely to develop conjunctival melanosis and ectropion but more likely to develop neoplastic ocular surface lesions than nonburning patients. Ocular surface cancer or a history of ocular surface cancer was present in 10% of patients. Thirteen percent of patients had some degree of visual axis impingement, and 5% of patients had no light perception in 1 or both eyes. The most common abnormalities were conjunctivitis (51%), corneal neovascularization (44%), dry eye (38%), corneal scarring (26%), ectropion (25%), blepharitis (23%), conjunctival melanosis (20%), and cataracts (14%). Results: Of the 87 patients, 91% had at least 1 ocular abnormality. Main Outcome Measures: Visual acuity eyelid, ocular surface, and lens pathology tear film and tear production measures and cytologic analysis of conjunctival surface swabs. Methods: Complete age- and developmental stage-appropriate ophthalmic examination. Eighty-three patients had XP, 3 patients had XP/Cockayne syndrome complex, and 1 patient had XP/trichothiodystrophy complex. ![]() Participants: Eighty-seven participants, aged 1.3 to 63.4 years, referred to the National Eye Institute (NEI) for examination from 1964 to 2011. Design: Retrospective observational case series. This report describes the ocular manifestations of XP in patients systematically evaluated in the Clinical Center at the National Institutes of Health. Clinical manifestations of XP include mild to extreme sensitivity to ultraviolet radiation resulting in inflammation and neoplasia in sun-exposed areas of the skin, mucous membranes, and ocular surfaces. They almost always use お姉さん ( oneesan) for their older sister or お兄さん ( oniisan) for their older brother when talking to them directly or talking about them with other family members.Objective: Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. ![]() However, younger brother or sisters do not call their older siblings by their name. In fact, within families in Japan, you can only call your younger sibling (brother or sister) by their name. While Japanese people don’t have an official word to call their younger sister -possibly a practice that holds its roots in the older hierarchy of Japanese families-older sisters are called oneesan instead of their names. Oneesan can also be used to speak directly to your older sister. You might hear kids in elementary school say this, but if you’re an adult, the better word to use is 姉 ( ane), which is explained below. If you refer to your older sister as oneesan to other people outside of your family, it can sound childish. However, oneesan is not a good word to use among your friends or peers if you’re talking about your own sister.
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