Background. Pili annulati is an inherited hair shaft abnormality with a wide range of clinical expression. Objective. We have examined closely three kindreds to reveal levels and character of expression of the phenoty...Background. Pili annulati is an inherited hair shaft abnormality with a wide range of clinical expression. Objective. We have examined closely three kindreds to reveal levels and character of expression of the phenotype and supplement cu rrent literature on the threshold for detection and aspects of hair shaft fragil ity. Patients and methods. Eleven cases of pili annulati from three families wer e included in a clinical and morphological study. All cases were assessed clinic ally and by light and scanning electron microscopy (SEM) of hair shafts. In addi tion, transmission electron microscopy (TEM) (four patients) and amino acid anal ysis (three patients) were undertaken on clinically overt cases. Results. Examination by light microscopy with a fluid mountant w as more sensitive than clinical examination, increasing the detection rate by 12 0% . Microscopic examination revealed that the characteristic periodic bands be come less frequent distally in the hair shaft. Microscopic features of weatherin g were found in two cases, adding pili annulati to the list of structural hair s haft dystrophies that may weaken hair and dispose to weathering. Amino acid anal ysis of the hair of three patients with pili annulati showed elevated lysine and decreased cystine content compared to 12 normal controls, consistent with the r educed threshold for weathering. Conclusion. Careful light microscopy with fluid -mounted hair is needed to detect subjects mildly affected by pili annulati. E xpression of the phenotype varieswidely between individuals, between hairs andwi thin hairs of the same individual,where ageing of the hair diminishes detectable features.展开更多
Objective: To report on a patient with clear gelatinoid deposits on the iris and in the anterior chamber (AC). Design: Observational case report. Methods: Examination of AC aspirate and iris and conjunctival biopsies ...Objective: To report on a patient with clear gelatinoid deposits on the iris and in the anterior chamber (AC). Design: Observational case report. Methods: Examination of AC aspirate and iris and conjunctival biopsies by light and transmission electron microscopy. Main Outcome Measures: Clinical and histopathological findings. Results: Analysis of the aqueous humor and iris ultrastructure disclosed the presence of urate deposits. Conclusions: Urate deposition in the iris and anterior chamber rarely occurs.展开更多
PURPOSE. To describe the clinical and pathologic characteristics of a family with a congenital stromal dystrophy of the cornea and to identify the genetic basis for this disorder. METHODS. All family members in three ...PURPOSE. To describe the clinical and pathologic characteristics of a family with a congenital stromal dystrophy of the cornea and to identify the genetic basis for this disorder. METHODS. All family members in three generations underwent ophthalmic examination. Stored corneal buttons were examined by transmission electron microscopy. Molecular genetic studies, including a genome- wide scan with microsatellite markers, linkage analysis, and DNA sequencing, were performed. RESULTS. The dystrophy was inherited in an autosomal dominant pattern and was seen as clouded corneas shortly after birth. No associated systemic abnormalities or congenital diseases were present. After penetrating keratoplasty (PK), the grafts remained completely clear in 56% of the eyes with amean (range) observation period of 19.5 years (3- 36). Transmission electron microscopy of corneal buttons revealed lamellae with normal arrangement of collagen fibrils separated by abnormal fibrillar layers. Genome- wide screening revealed linkage to chromosome 12q22, with a maximum LOD score of4.68 at D12S351. Subsequent sequencing of candidate genes revealed a frameshift mutation in the DCN gene (c.967delT) that encodes for decorin, predicting a C- terminal truncation of the decorin protein (p.S323fsX5). CONCLUSIONS. The authors hypothesize that truncated decorin binds to collagen in a suboptimal way, disturbing the regularity of corneal collagen fibril formation and thereby causing corneal opacities. To the best of the authors’ knowledge, this is the first description of a disorder associated with an inherited alteration in the decorin gene in humans.展开更多
文摘Background. Pili annulati is an inherited hair shaft abnormality with a wide range of clinical expression. Objective. We have examined closely three kindreds to reveal levels and character of expression of the phenotype and supplement cu rrent literature on the threshold for detection and aspects of hair shaft fragil ity. Patients and methods. Eleven cases of pili annulati from three families wer e included in a clinical and morphological study. All cases were assessed clinic ally and by light and scanning electron microscopy (SEM) of hair shafts. In addi tion, transmission electron microscopy (TEM) (four patients) and amino acid anal ysis (three patients) were undertaken on clinically overt cases. Results. Examination by light microscopy with a fluid mountant w as more sensitive than clinical examination, increasing the detection rate by 12 0% . Microscopic examination revealed that the characteristic periodic bands be come less frequent distally in the hair shaft. Microscopic features of weatherin g were found in two cases, adding pili annulati to the list of structural hair s haft dystrophies that may weaken hair and dispose to weathering. Amino acid anal ysis of the hair of three patients with pili annulati showed elevated lysine and decreased cystine content compared to 12 normal controls, consistent with the r educed threshold for weathering. Conclusion. Careful light microscopy with fluid -mounted hair is needed to detect subjects mildly affected by pili annulati. E xpression of the phenotype varieswidely between individuals, between hairs andwi thin hairs of the same individual,where ageing of the hair diminishes detectable features.
文摘Objective: To report on a patient with clear gelatinoid deposits on the iris and in the anterior chamber (AC). Design: Observational case report. Methods: Examination of AC aspirate and iris and conjunctival biopsies by light and transmission electron microscopy. Main Outcome Measures: Clinical and histopathological findings. Results: Analysis of the aqueous humor and iris ultrastructure disclosed the presence of urate deposits. Conclusions: Urate deposition in the iris and anterior chamber rarely occurs.
文摘PURPOSE. To describe the clinical and pathologic characteristics of a family with a congenital stromal dystrophy of the cornea and to identify the genetic basis for this disorder. METHODS. All family members in three generations underwent ophthalmic examination. Stored corneal buttons were examined by transmission electron microscopy. Molecular genetic studies, including a genome- wide scan with microsatellite markers, linkage analysis, and DNA sequencing, were performed. RESULTS. The dystrophy was inherited in an autosomal dominant pattern and was seen as clouded corneas shortly after birth. No associated systemic abnormalities or congenital diseases were present. After penetrating keratoplasty (PK), the grafts remained completely clear in 56% of the eyes with amean (range) observation period of 19.5 years (3- 36). Transmission electron microscopy of corneal buttons revealed lamellae with normal arrangement of collagen fibrils separated by abnormal fibrillar layers. Genome- wide screening revealed linkage to chromosome 12q22, with a maximum LOD score of4.68 at D12S351. Subsequent sequencing of candidate genes revealed a frameshift mutation in the DCN gene (c.967delT) that encodes for decorin, predicting a C- terminal truncation of the decorin protein (p.S323fsX5). CONCLUSIONS. The authors hypothesize that truncated decorin binds to collagen in a suboptimal way, disturbing the regularity of corneal collagen fibril formation and thereby causing corneal opacities. To the best of the authors’ knowledge, this is the first description of a disorder associated with an inherited alteration in the decorin gene in humans.
