Limbal Stem Cell Deficiency Associated With LADD Syndrome

Cortês, M.M.M.; Lambìase, Alessandro; Sacchetti, Marta; Aronni, Silvia; Bombardieri, Stefano

doi:10.1001/archopht.123.5.691

Cited by 21 publications

(10 citation statements)

References 5 publications

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“…The latter two are types of hereditary sensory and autonomic neuropathies (HSAN). Corneal anesthesia has also been reported in other conditions such as lacrimo‐auriculo‐dento‐digital (LADD) syndrome [Cortes et al, 2005], multiple pterygium syndrome type Rajab [Rajab et al, 2005], and Vogt–Koyanagi–Harada syndrome [Brouzas et al, 1997]. However, the phenotypes described are distinct to that seen in our proposita.…”

Section: Discussionsupporting

confidence: 70%

Ramos‐Arroyo syndrome: Confirmation of an entity

Tooley

Cosgrove

Laws

et al. 2011

American J of Med Genetics Pt A

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In 1987, Ramos-Arroyo et al. described a family with a previously unreported combination of features, which included corneal anesthesia, short stature, sensorineural deafness, learning difficulties, and a characteristic facial appearance. The family was reviewed in 2008 and additional features were noted. The name Ramos-Arroyo syndrome was proposed. The condition can be delineated by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschprung disease, short stature, and intellectual disability. No other patient has been described since. Here, we report on a 5-year-old girl with features consistent with Ramos-Arroyo syndrome. We propose an overlap of this condition with dysautonomia syndromes.

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Section: Discussionsupporting

confidence: 70%

Ramos‐Arroyo syndrome: Confirmation of an entity

Tooley

Cosgrove

Laws

et al. 2011

American J of Med Genetics Pt A

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“…As LADD syndrome and ALSG have variable manifestations, this group of disorders may well be underdiagnosed. The overlap between these disorders is demonstrated in Table 1 that compares our cases to those reported in the literature (1, 2, 4, 5, 9, 33–35). The hypoplasias/aplasias/atresias of the salivary and lacrimal systems are the common features that are shared by these two disorders.…”

Section: Discussionmentioning

confidence: 66%

LADD syndrome is caused byFGF10mutations

et al. 2006

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Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125-127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3-year-old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non-conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19-year-old mother with ALSG and her 2-year-old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations.

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“…Keratitis secondary to LSCD can occur in a subpopulation of affected individuals. 64 dyskeratosis congenital, 65 ectrodactyly-ectodermal dysplasia-clefting syndrome, 66,67 keratitis-ichthyosis-deafness syndrome, 68,69 lacrimo-auriculo-dento-digital syndrome (Levy-Hollister) syndrome, 70 and epidermolysis bullosa, 71,72 Other genetic disorders such as autosomal dominant keratitis and dominantly inherited keratitis which have been reported only once are not included in Table 2. Additional reports are needed to confirm the genetic etiology of LSCD in these diseases.…”

Section: Congenital Aniridiamentioning

confidence: 99%

Global Consensus on Definition, Classification, Diagnosis, and Staging of Limbal Stem Cell Deficiency

Deng

Borderie

Chan

et al. 2018

Cornea

230

212

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Purpose: Despite extensive knowledge gained over the last three decades regarding limbal stem cell deficiency (LSCD), the disease is not clearly defined, and there is lack of agreement on the diagnostic criteria, staging and classification system among treating physicians and research scientists working on this field. There is therefore an unmet need to obtain global consensus on the definition, classification, diagnosis and staging of LSCD. Methods: A Limbal Stem Cell Working Group was first established by the Cornea Society in 2012. The Working Group was divided into subcommittees. Four face-to-face meetings, frequent email discussions and teleconferences were conducted since then to obtain agreement on a strategic plan and methodology from all the participants after a comprehensive literature search,

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Limbal Stem Cell Deficiency Associated With LADD Syndrome

Cited by 21 publications

References 5 publications

Ramos‐Arroyo syndrome: Confirmation of an entity

Ramos‐Arroyo syndrome: Confirmation of an entity

LADD syndrome is caused byFGF10mutations

Global Consensus on Definition, Classification, Diagnosis, and Staging of Limbal Stem Cell Deficiency

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