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1.

[Congenital hereditary corneal dystrophy associated with various extraoculary anomalies]. / Dystrophie congénitale héréditaire de la cornée associée à des anomalies extraoculaires diverses

Scialfa, A; Mollica, F; Pavone, L.

Ophthalmologica ; 171(6): 410-8, 1975.

Article in French | MEDLINE | ID: mdl-1080846

ABSTRACT

Two subjects (brother and sister), children of consanguineous parents, showed a typical congenital corneal dystrophy associated with mental retardation and a bilateral malformation of the little finger. One of them, a boy of 10, was fat and showed a hearing loss for high tones. His corneal opacity diminished during 7 years observation. Seeing that the affected tissues were of mesenchymal origin, the authors conclude that the syndrome was mesodermal.

Subject(s)

Corneal Dystrophies, Hereditary/complications , Fingers/abnormalities , Intellectual Disability/complications , Child , Consanguinity , Corneal Dystrophies, Hereditary/congenital , Corneal Dystrophies, Hereditary/genetics , Corneal Opacity/complications , Corneal Opacity/congenital , Corneal Opacity/genetics , Female , Hearing Disorders/complications , Hearing Disorders/congenital , Hearing Disorders/genetics , Humans , Intellectual Disability/genetics , Male , Pedigree

2.

Ocular albinism in a female.

Scialfa, A C.

Am J Ophthalmol ; 73(6): 943-8, 1972 Jun.

Article in English | MEDLINE | ID: mdl-5032699

Subject(s)

Albinism/genetics , Eye Diseases/genetics , Adolescent , Albinism/complications , Child , Female , Humans , Male , Nystagmus, Pathologic/etiology , Pedigree , Sex Chromosomes , Sex Factors , Visual Acuity

3.

[Physiopathology of the retina and vitamin A deficiency]. / Patologia funzionale della retina ed ipovitaminosi A.

Scialfa, A.

Ann Ottalmol Clin Ocul ; 95(12): 1027-40, 1969 Dec.

Article in Italian | MEDLINE | ID: mdl-5404951

Subject(s)

Eye Manifestations , Retina/metabolism , Vitamin A Deficiency/diagnosis , Adult , Electroretinography , Female , Humans , Vitamin A/administration & dosage , Vitamin A/metabolism , Vitamin A Deficiency/drug therapy

4.

[Keratoglobus (clinical varieties; genetic problems)]. / Contributo alla conoscenza del cheratoglobo (varietà cliniche; problemi genetici)

Scialfa, A; Gorgone, G; Greco, S.

Ann Ottalmol Clin Ocul ; 95(12): 1041-8, 1969 Dec.

Article in Italian | MEDLINE | ID: mdl-5404952

Subject(s)

Cornea/abnormalities , Consanguinity , Female , Humans , Male , Middle Aged , Pedigree

5.

[Survey on the epidemiology of cataract in Sardinia in the period 1917-1967]. / Indagine sulla epidemiologia della cataratta in Sardegna nel periodo 1917-1967.

Pisano, E; Scialfa, A; Borellini, S.

Ann Ottalmol Clin Ocul ; 95(11): 901-11, 1969 Nov.

Article in Italian | MEDLINE | ID: mdl-5400238

Subject(s)

Cataract/epidemiology , Adult , Age Factors , Aged , History, 20th Century , Humans , Italy , Middle Aged

6.

[Comparative study on the discriminating value of Ishihara tables 22-23-24-25, Panel D 15, and the analomaloscope in the diagnosis of congenital red-green type dyschromatopsias]. / Studio comparativosul valore discriminante delle tavole 22-23-24-25 di Ishihara, Panel D 15 e anomaloscopio nella diagnosi delle discromatopsie congenite di tipo rosso-verde.

Scialfa, A; Arcidiacono, A; Giuffrè, V.

Ann Ottalmol Clin Ocul ; 95(11): 857-74, 1969 Nov.

Article in Italian | MEDLINE | ID: mdl-5312835

Subject(s)

Color Perception Tests , Adolescent , Adult , Analysis of Variance , Color Vision Defects/congenital , Humans , Male , Methods

7.

[Intrafamilial association of complete and incomplete congenital achromatopsia with amblyopia and atypical (without amblyopia) of dominant autosomal transmission]. / Associazione intrafamiliare di acromatopsia congenita completa e incompleta con ambliopia e atipica (senza ambliopia) a trasmissione autosomale dominante.

Ponte, F; Scialfa, A.

Ann Ottalmol Clin Ocul ; 94(6): 608-32, 1968 Jun.

Article in Italian | MEDLINE | ID: mdl-5312373

Subject(s)

Amblyopia/complications , Color Vision Defects/genetics , Genes, Dominant , Myopia/complications , Adolescent , Adult , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Pedigree

8.

[3 cases of familial external partial bulbar ophthalmoplegia of the "crawfish eye" type]. / Tre casi di oftalmoplegia bulbare parziale esterna familiare tipo "occhio di gambero".

Rubino, A; Scialfa, A.

Riv Otoneurooftalmol ; 43(1): 1-16, 1968.

Article in Italian | MEDLINE | ID: mdl-5704991

Subject(s)

Ophthalmoplegia/genetics , Strabismus/genetics , Adolescent , Child, Preschool , Female , Humans , Male , Middle Aged

9.

[An atypical case of tapeto-retinal degeneration associated with coloboma of the iris and with whitish foci in the lower retinal quadrants]. / Un caso atipico di degenerazione tappeto-retinica associata a coloboma dell'iride ed a focolai biancastri nei quadranti inferiori retinici.

Scialfa, A.

Ann Ottalmol Clin Ocul ; 93(10): 1009-17, 1967 Oct.

Article in Italian | MEDLINE | ID: mdl-4974416

Subject(s)

Choroid , Eye Abnormalities , Eye Diseases , Iris/abnormalities , Retina , Retinitis Pigmentosa/complications , Adult , Coloboma , Humans , Male , Retinal Degeneration

10.

[Dominant retinitis pigmentosa and retinitis punctata albescens]. / Retinite pigmentosa dominante e retinite puntata albescente.

Scialfa, A; Arnone, G.

Ann Ottalmol Clin Ocul ; 93(7): 667-76, 1967 Jul.

Article in Italian | MEDLINE | ID: mdl-5603566

Subject(s)

Retinitis Pigmentosa/genetics , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Retinal Degeneration/genetics

11.

[Ocular albinism and dyschromatopsia]. / Albinisme oculaire et dyschromatopsie.

Scialfa, A.

Arch Ophtalmol Rev Gen Ophtalmol ; 27(5): 483-94, 1967.

Article in French | MEDLINE | ID: mdl-4227858

Subject(s)

Albinism , Color Vision Defects/genetics , Adult , Child , Female , Humans , Male , Ophthalmoscopy

12.

[Cutaneo-ophthalmic cytogenetic and histological study in a case of Rothmund's syndrome]. / Studio citogenetico ed istologico cutaneo-oftalmico in un caso di sindrome di Rothmund.

Bellafiore, V; Scialfa, A.

Minerva Dermatol ; 42(2): 49-51, 1967 Feb.

Article in Italian | MEDLINE | ID: mdl-5601380

Subject(s)

Brain Diseases/genetics , Cataract/genetics , Genetic Diseases, Inborn , Hypercholesterolemia/genetics , Muscular Diseases/genetics , Skin Diseases/genetics , Consanguinity , Humans , Infant , Male

13.

[A case of Béguéz César-Steinbrinck-Chediak-Higashi syndrome (incomplete albinismus universalis, with ocular albinoidism, hepatosplenomegaly, atypical leukocyte inclusions) with grave disorders in the electroretinogram]. / Un caso di sindrome di Béguéz César-Steinbrinck-Chediak-Higashi (albinismo universale incompleto con albinoidismo oculare, epatosplenomegalia, inclusioni leucocitarie atipiche) con grave compromissione dell'elettroretinogramma.

Santino, D; Scialfa, A.

Ann Ottalmol Clin Ocul ; 92(10): 793-807, 1966 Oct.

Article in Italian | MEDLINE | ID: mdl-6011800

Subject(s)

Albinism , Cytoplasmic Granules , Eye Diseases , Hepatomegaly , Leukocytes , Retina , Splenomegaly , Electroretinography , Female , Humans , Infant

14.

[The Rothmund syndrome. (Cutaneous-lenticular histological study and cytogenetic study)]. / La sindrome di Rothmund. (Studio istologico cutaneo-lenticolare e citogenetico)

Bellafiore, V; Giuffrè, L; Scialfa, A.

Ann Ottalmol Clin Ocul ; 92(6): 394-407, 1966 Jun.

Article in Italian | MEDLINE | ID: mdl-5989504

Subject(s)

Blood Protein Disorders , Cataract/congenital , Skin Diseases/congenital , Chromosomes , Consanguinity , Electroencephalography , Genetics, Medical , Humans , Infant , Male , Rothmund-Thomson Syndrome

15.

[Congenital parenchymal dystrophy of the cornea. (On 2 personal cases)]. / La distrofia parenchimale cogenita della cornea. (Su due osservazioni personali)

Scialfa, A.

Ann Ottalmol Clin Ocul ; 92(6): 383-93, 1966 Jun.

Article in Italian | MEDLINE | ID: mdl-5299890

Subject(s)

Corneal Dystrophies, Hereditary/congenital , Corneal Opacity/congenital , Child, Preschool , Diagnosis, Differential , Humans , Hydrophthalmos/congenital , Keratitis/congenital , Male , Syphilis, Congenital/diagnosis

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