Images of Lisch nodules across the spectrum

Ragge, Nicola; Falk, Rena E.; Cohen, WN; Murphree, A. Linn

doi:10.1038/eye.1993.20

Cited by 80 publications

(34 citation statements)

References 17 publications

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“…'5 Color illustrations shown in a recent article are claimed to enable the cinican to readily differentiate hamartomas from other iris lesions. 82 The complexity of genetic (and possibly environmental) inferences on developmental biologic and pathophysiologic mechanisms may be inferred to be the bases for clinical diversity in NFL. This diversity is apparently reflected in the spectrum of iris findings seen in NF1 and the problematic specificity (for diagnostic purposes) they represent.…”

Section: Appendix Review Of Selected Literaturementioning

confidence: 99%

Neurofibromatosis type 1 in children

Beauchamp

1996

American Journal of Ophthalmology

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Section: Appendix Review Of Selected Literaturementioning

confidence: 99%

Neurofibromatosis type 1 in children

Beauchamp

1996

American Journal of Ophthalmology

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“…Candidate genes responsible for variation in iris texture may be different alleles of Pax6, and its downstream target genes, COX-1, COX-2, NF1, VEGF, Ezrin, IR 185/OPTC, FOXC1, TIGR/GCL1A/ Myocilin, UBL5, RIEG1, BARX1, CB1, TRP-1, TRP-2, OCA1, OCA2, EYCL1, EYCL2, EYCL3, TYRP1 the P gene, and QNR-71 (Aksan & Goding, 1998;Anderson et al, 2002;Boissy & Nordlund, 1997;Chang et al, 1999;Damm et al, 2001;Friedman et al, 2001;Friedman et al, 2000;Gould & Walter 2000;Huang & Wenhu, 2000;Jaworksi et al, 1997;Kim et al, 1999;Kivelä et al, 2000;Kulak et al, 1998;Lowings et al, 1992;Lu et al, 1998;Orlow & Brilliant, 1999;Oetting & King, 1999;Procella et al, 2000;Ragge et al, 1993;Rebbeck et al, 2002;Shen et al, 1996;Simpson & Price, 2002;Wang et al, 2001;Zehavi et al, 1986) and other genes that expressed in the iris Wistow, 2002). Mutations in the Pax6 gene lead to aniridia, a malformation of the eye, chiefly characterized by iris hypoplasia, and disturbances in the development of the lens, cornea and retina (Glaser, 1992;Gronskov, 2001).…”

Section: Discussionmentioning

confidence: 99%

Importance of Genetic Effects for Characteristics of the Human Iris

Larsson¹,

Pedersen

Stattin

2003

Twin res.

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T he relative importance of genetic influences (heritability) on five general textural quality characteristics of the human iris was assessed using sex and age limitation models. Colour photographs of irises were available from 100 monozygotic twin pairs, 99 dizygotic twin pairs, and 99 unrelated randomly paired age-matched German subjects. Comparative scales were constructed and two judges who were blind to zygosity independently rated five characteristic of the subjects' left iris. Inter-rater reliabilities were larger than .90 for all five scales. The heritabilities for the five iris characteristics ranged from .51-.90. No sex-specific genetic factors were found for the iris characteristics. Age-group differences in heritability were found for one of the five iris characteristics -"distinction of white dot rings". Heritability was greater for the older cohort (90%) than the younger (73%). The iris characteristics that showed the next highest additive-genetic effect were "contractional furrows" (78%) and "frequency of crypts" in the main stroma leaf (66%).Little is known about the relative importance of genetic influences on textural quality of the human iris, although a number of genes (Pax6, Cox-1, Cox-2, NF1, VEGF, Ezerin, IR 185/OPTC), are expressed in the iris as well as throughout the central nervous system. Nevertheless, their relative importance for variation in iris textural qualities is not known.In the few studies reported, iris features are highly heritable. The heritability for eye color in the Louisville Twin Study (Bito et al., 1997) was .98. Intra-pair differences for 30 iris characteristics were such that Burkhardt (1992) concluded that nine of these traits were heritable, although heritability was not estimated. These findings, in conjunction with the gene expression studies, suggest that iris characteristics other than color may be heritable.Two unpublished studies show that there may be a relationship between specific textural characteristics of the iris and the personality (Bruno, 1990;Larsson, 1998). Seven out of 11 iris features were significantly correlated with personality factors (Bruno, 1990). The strongest relationship was between extraversion and crypts in the main stroma leaf (r = .23, p < .001, n = 208). However, simply evaluating phenotypic associations between iris characteristics and personality traits does not say anything about whether the associations reflect shared genetic mechanisms. To answer that question, heritability for the specific iris characteristic as well as personality must be estimated in the same twin sample.Past results are suggestive but before any conclusions concerning the validity of the relationships can be made, the relative importance of genetic effects for different textural quality characteristics in the iris must be demonstrated. The present study investigates whether textural differences in the iris can be used as a biomarker, presumably for a cluster of genes that is expressed in the iris (and putatively in the CNS), by estimating the relative im...

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“…They are not present at birth, show gradually increasing numbers with age and are present in 90% of NF-1 individuals over 6 years of age [33][34][35]. Since Lisch nodules finally can be seen in almost every NF-1 patient, they are the ophthalmologic hallmark of the disease.…”

Section: Nf-1mentioning

confidence: 99%

Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications

Kreusel¹

2005

Familial Cancer

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Von Hippel-Lindau disease (VHL) and neurofibromatosis type 1 (NF 1) are hereditary multitumor syndromes that show associated ocular manifestations. Capillary retinal angioma, a benign vascular tumor, is the classical ocular lesion in VHL. It often appears as the first manifestation of the disease and may thus lead to the diagnosis of VHL. Since small angiomas can be treated easily by laser photocoagulation, a regular ocular screening of VHL patients is recommended. Ocular manifestations of NF 1 are more diverse as compared to VHL. Lisch nodules of the iris are an important diagnostic criteria of NF 1 since they can be found in almost every affected patient. Optic glioma can occur both intraorbitally and intracranially. The intraorbital form causes progressive protrusion of the globe and eventually blindness. Extension of the tumor beyond the chiasm worsens the prognosis quoad vitam. The hallmark of NF 1, namely cutaneous neurofibroma can cause visual impairment when affecting the skin of the eyelids. The rare intraorbital pexiform neurofibroma is associated with abnormal development of the orbital bones and infantile glaucoma. It may result in orbital mass effects and therefore may need surgical excision.

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Images of Lisch nodules across the spectrum

Cited by 80 publications

References 17 publications

Neurofibromatosis type 1 in children

Neurofibromatosis type 1 in children

Importance of Genetic Effects for Characteristics of the Human Iris

Ophthalmological manifestations in VHL and NF 1: pathological and diagnostic implications

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