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1.
Ophthalmic Paediatr Genet ; 14(4): 165-75, 1993 Dec.
Article in English | MEDLINE | ID: mdl-8015787

ABSTRACT

Two brothers with butterfly-shaped macular dystrophy (BSMD) are reported. The anatomical and functional data were analyzed in 11 family members. Progressive photoreceptor dysfunction, supported by ERG abnormalities, was documented in both patients. The progression of the disease was observed over a period of seven years. The present observations emphasize that BSMD, at least in some cases, can be a chronic progressive disorder with secondary involvement of the photoreceptors.


Subject(s)
Macular Degeneration/genetics , Adult , Electroretinography , Fluorescein Angiography , Fundus Oculi , Humans , Longitudinal Studies , Macular Degeneration/pathology , Macular Degeneration/physiopathology , Male , Middle Aged , Pedigree , Photoreceptor Cells/physiopathology , Pigment Epithelium of Eye/physiopathology
2.
Ophthalmic Paediatr Genet ; 4(2): 107-10, 1984 Aug.
Article in English | MEDLINE | ID: mdl-6545384

ABSTRACT

Two cases of persistent hyperplastic primary vitreous were operated by the pars plana approach. The technique applied appears to be safe and effective.


Subject(s)
Eye Diseases/surgery , Vitreous Body/pathology , Eye Diseases/congenital , Female , Humans , Hyperplasia , Infant, Newborn , Male , Vitreous Body/surgery
3.
Boll Soc Ital Biol Sper ; 60(6): 1239-44, 1984 Jun 30.
Article in Italian | MEDLINE | ID: mdl-6383432

ABSTRACT

Authors describe the echographic characteristics A and B-scan of a malignant primitive melanoma of the orbit and the diagnostic difficulties. In fact we do not have, in the scientific literature, abstracts with an echographic description. The A-scan shows us a characteristic pattern: a frontal big echo followed from many lessing echoes not returning to the zero line; finally a big closing echo. The B-scan shows us a neoformation of regular aspect with clear limits, dishomogeneous inside, near the ocular bulb. The echographic pattern is construed like a cystic neoformation because of the final echo and the good echographic transmission. This pattern is very similar to the echographic aspects of the choroideal malignant melanoma.


Subject(s)
Melanoma/diagnosis , Orbital Neoplasms/diagnosis , Ultrasonography , Humans , Male , Middle Aged
4.
Boll Soc Ital Biol Sper ; 60(6): 1245-51, 1984 Jun 30.
Article in Italian | MEDLINE | ID: mdl-6383433

ABSTRACT

Authors describe the echographic characteristics A and B-scan of the disciform macular degeneration. They also examine the problems of an echographic differential diagnosis between the upper described pathological pattern and the melanoma of small dimensions growing from the posterior pole. With the B-scan, both pathological patterns show a zone of echoes which is of solid aspect, not so much raised from the retina. The only characteristic element is the choroideal excavation that we always have in the choroideal melanoma and never in the disciform macular degeneration. Even the A-scan is useful mostly if we reduce the amplification level we have a separation of the internal echoes better in the disciform macular degeneration than in the melanoma. Moreover in some cases when the pathological area is small, we cannot have an echographic differential diagnosis in order to recognize the lesion.


Subject(s)
Eye Neoplasms/diagnosis , Macular Degeneration/diagnosis , Melanoma/diagnosis , Ultrasonography , Humans , Ultrasonography/methods
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